"Isolation and characterization of a cDNA coding for human factor IX."
Kurachi K. , Davie E.W.
Proc. Natl. Acad. Sci. U.S.A.79:6461-6464(1982) [PubMed] [Europe PMC] [Abstract]

"Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX."
Jaye M. , de la Salle H. , Schamber F. , Balland A. , Kohli V. , Findeli A. , Tolstoshev P. , Lecocq J.-P.
Nucleic Acids Res.11:2325-2335(1983) [PubMed] [Europe PMC] [Abstract]

"The gene structure of human anti-haemophilic factor IX."
Anson D.S. , Choo K.H. , Rees D.J.G. , Giannelli F. , Gould K.G. , Huddleston J.A. , Brownlee G.G.
EMBO J.3:1053-1060(1984) [PubMed] [Europe PMC] [Abstract]

"Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)."
Yoshitake S. , Schach B.G. , Foster D.C. , Davie E.W. , Kurachi K.
Biochemistry24:3736-3750(1985) [PubMed] [Europe PMC] [Abstract]

"Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX."
McGraw R.A. , Davis L.M. , Noyes C.M. , Lundblad R.L. , Roberts H.R. , Graham J.B. , Stafford D.W.
Proc. Natl. Acad. Sci. U.S.A.82:2847-2851(1985) [PubMed] [Europe PMC] [Abstract]

"Alternative splicing variant of Homo sapiens coagulation factor IX lacking EGF like domain."
Sata S. , Yonemitsu Y. , Nakagawa K. , Sueishi K.
Submitted (2004-08) to the EMBL/GenBank/DDBJ databases

SeattleSNPs variation discovery resource
Submitted (2002-08) to the EMBL/GenBank/DDBJ databases

"Homo sapiens coagulation factor IX (F9), mRNA."
Nguyen D.T. , Nguyen P.V. , Nong H.V.
Submitted (2011-03) to the EMBL/GenBank/DDBJ databases

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa."
de la Salle C. , Charmantier J.L. , Ravanat C. , Ohlmann P. , Hartmann M.L. , Schuhler S. , Bischoff R. , Ebel C. , Roecklin D. , Balland A.
Nouv. Rev. Fr. Hematol.35:473-480(1993) [PubMed] [Europe PMC] [Abstract]

"Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment."
Jagadeeswaran P. , Lavelle D.E. , Kaul R. , Mohandas T. , Warren S.T.
Somat. Cell Mol. Genet.10:465-473(1984) [PubMed] [Europe PMC] [Abstract]

"Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase."
Suehiro K. , Kawabata S. , Miyata T. , Takeya H. , Takamatsu J. , Ogata K. , Kamiya T. , Saito H. , Niho Y. , Iwanaga S.
J. Biol. Chem.264:21257-21265(1989) [PubMed] [Europe PMC] [Abstract]

"Genomic amplification with transcript sequencing."
Stoflet E.S. , Koeberl D.D. , Sarkar G. , Sommer S.S.
Science239:491-494(1988) [PubMed] [Europe PMC] [Abstract]

"A deletion located in the 3' non translated part of the factor IX gene responsible for mild haemophilia B."
de la Salle C. , Charmantier J.L. , Baas M.-J. , Schwartz A. , Wiesel M.L. , Grunebaum L. , Cazenave J.-P.
Thromb. Haemost.70:370-371(1993) [PubMed] [Europe PMC] [Abstract]

"The occurrence of beta-hydroxyaspartic acid in the vitamin K-dependent blood coagulation zymogens."
McMullen B.A. , Fujikawa K. , Kisiel W.
Biochem. Biophys. Res. Commun.115:8-14(1983) [PubMed] [Europe PMC] [Abstract]

"Activation of human factor IX (Christmas factor)."
di Scipio R.G. , Kurachi K. , Davie E.W.
J. Clin. Invest.61:1528-1538(1978) [PubMed] [Europe PMC] [Abstract]

"Derivatives of blood coagulation factor IX contain a high affinity Ca2+-binding site that lacks gamma-carboxyglutamic acid."
Morita T. , Isaacs B.S. , Esmon C.T. , Johnson A.E.
J. Biol. Chem.259:5698-5704(1984) [PubMed] [Europe PMC] [Abstract]

Morita T. , Isaacs B.S. , Esmon C.T. , Johnson A.E.
J. Biol. Chem.260:2583-2583(1985)

"Identification of a disaccharide (Xyl-Glc) and a trisaccharide (Xyl2-Glc) O-glycosidically linked to a serine residue in the first epidermal growth factor-like domain of human factors VII and IX and protein Z and bovine protein Z."
Nishimura H. , Kawabata S. , Kisiel W. , Hase S. , Ikenaka T. , Takao T. , Shimonishi Y. , Iwanaga S.
J. Biol. Chem.264:20320-20325(1989) [PubMed] [Europe PMC] [Abstract]

"A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z."
Iwanaga S. , Nishimura H. , Kawabata S. , Kisiel W. , Hase S. , Ikenaka T.
Adv. Exp. Med. Biol.281:121-131(1990) [PubMed] [Europe PMC] [Abstract]

"Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue."
Nishimura H. , Takao T. , Hase S. , Shimonishi Y. , Iwanaga S.
J. Biol. Chem.267:17520-17525(1992) [PubMed] [Europe PMC] [Abstract]

"Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169."
Agarwala K.L. , Kawabata S. , Takao T. , Murata H. , Shimonishi Y. , Nishimura H. , Iwanaga S.
Biochemistry33:5167-5171(1994) [PubMed] [Europe PMC] [Abstract]

"Partial phosphorylation of serine-68 in EGF-1 of human factor IX."
Harris R.J. , Papac D.I. , Truong L. , Smith K.J.

"Posttranslational modifications of recombinant myotube-synthesized human factor IX."
Arruda V.R. , Hagstrom J.N. , Deitch J. , Heiman-Patterson T. , Camire R.M. , Chu K. , Fields P.A. , Herzog R.W. , Couto L.B. , Larson P.J. , High K.A.
Blood97:130-138(2001) [PubMed] [Europe PMC] [Abstract]

"Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase."
Takeuchi H. , Fernandez-Valdivia R.C. , Caswell D.S. , Nita-Lazar A. , Rana N.A. , Garner T.P. , Weldeghiorghis T.K. , Macnaughtan M.A. , Jafar-Nejad H. , Haltiwanger R.S.
Proc. Natl. Acad. Sci. U.S.A.108:16600-16605(2011) [PubMed] [Europe PMC] [Abstract]

"Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy."
Freedman S.J. , Furie B.C. , Furie B. , Baleja J.D.
J. Biol. Chem.270:7980-7987(1995) [PubMed] [Europe PMC] [Abstract]

"Structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of factor IX."
Freedman S.J. , Furie B.C. , Furie B. , Baleja J.D.
Biochemistry34:12126-12137(1995) [PubMed] [Europe PMC] [Abstract]

"Identification of the phospholipid binding site in the vitamin K-dependent blood coagulation protein factor IX."
Freedman S.J. , Blostein M.D. , Baleja J.D. , Jacobs M. , Furie B.C. , Furie B.
J. Biol. Chem.271:16227-16236(1996) [PubMed] [Europe PMC] [Abstract]

"Refinement of the NMR solution structure of the gamma-carboxyglutamic acid domain of coagulation factor IX using molecular dynamics simulation with initial Ca2+ positions determined by a genetic algorithm."
Li L. , Darden T.A. , Freedman S.J. , Furie B.C. , Furie B. , Baleja J.D. , Smith H. , Hiskey R.G. , Pedersen L.G.
Biochemistry36:2132-2138(1997) [PubMed] [Europe PMC] [Abstract]

"Sequence-specific 1H NMR assignments, secondary structure, and location of the calcium binding site in the first epidermal growth factor like domain of blood coagulation factor IX."
Huang L.H. , Cheng H. , Pardi A. , Tam J.P. , Sweeney W.V.
Biochemistry30:7402-7409(1991) [PubMed] [Europe PMC] [Abstract]

"The three-dimensional structure of the first EGF-like module of human factor IX: comparison with EGF and TGF-alpha."
Baron M. , Norman D.G. , Harvey T.S. , Handford P.A. , Mayhew M. , Tse A.G.D. , Brownlee G.G. , Campbell I.D.C.
Protein Sci.1:81-90(1992) [PubMed] [Europe PMC] [Abstract]

"The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions."
Rao Z. , Handford P. , Mayhew M. , Knott V. , Brownlee G.G. , Stuart D.
Cell82:131-141(1995) [PubMed] [Europe PMC] [Abstract]

"Coagulation factor IXa: the relaxed conformation of Tyr99 blocks substrate binding."
Hopfner K.-P. , Lang A. , Karcher A. , Sichler K. , Kopetzki E. , Brandstetter H. , Huber R. , Bode W. , Engh R.A.
Structure7:989-996(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular pathology of haemophilia B."
Green P.M. , Bentley D.R. , Mibashan R.S. , Nilsson I.M. , Giannelli F.
EMBO J.8:1067-1072(1989) [PubMed] [Europe PMC] [Abstract]

"Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene."
Sommer S.S.
FASEB J.6:2767-2774(1992) [PubMed] [Europe PMC] [Abstract]

"Haemophilia B: database of point mutations and short additions and deletions -- fourth edition, 1993."
Giannelli F. , Green P.M. , High K.A. , Sommer S. , Poon M.-C. , Ludwig M. , Schwaab R. , Reitsma P.H. , Goossens M. , Yoshioka A. , Brownlee G.G.
Nucleic Acids Res.21:3075-3087(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145."
Noyes C.M. , Griffith M.J. , Roberts H.R. , Lundblad R.L.
Proc. Natl. Acad. Sci. U.S.A.80:4200-4202(1983) [PubMed] [Europe PMC] [Abstract]

"Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4."
Bentley A.K. , Rees D.J. , Rizza C. , Brownlee G.G.
Cell45:343-348(1986) [PubMed] [Europe PMC] [Abstract]

"Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B."
Davis L.M. , McGraw R.A. , Ware J.L. , Roberts H.R. , Stafford D.W.
Blood69:140-143(1987) [PubMed] [Europe PMC] [Abstract]

"Genetic defect responsible for the dysfunctional protein: factor IX (Long Beach)."
Ware J. , Davis L. , Frazier D. , Bajaj S.P. , Stafford D.W.
Blood72:820-822(1988) [PubMed] [Europe PMC] [Abstract]

"Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain."
Sugimoto M. , Miyata T. , Kawabata S. , Yoshioka A. , Fukui H. , Takahashi H. , Iwanaga S.
J. Biochem.104:878-880(1988) [PubMed] [Europe PMC] [Abstract]

"Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo."
Monroe D.M. , McCord D.M. , Huang M.N. , High K.A. , Lundblad R.L. , Kasper C.K. , Roberts H.R.
Blood73:1540-1544(1989) [PubMed] [Europe PMC] [Abstract]

"Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior."
Attree O. , Vidaud D. , Vidaud M. , Amselem S. , Lavergne J.-M. , Goossens M.
Genomics4:266-272(1989) [PubMed] [Europe PMC] [Abstract]

"Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG."
Koeberl D.D. , Bottema C.D. , Buerstedde J.-M. , Sommer S.S.
Am. J. Hum. Genet.45:448-457(1989) [PubMed] [Europe PMC] [Abstract]

"Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145."
Liddell M.B. , Peake I.R. , Taylor S.A. , Lillicrap D.P. , Giddings J.C. , Bloom A.L.
Br. J. Haematol.72:556-560(1989) [PubMed] [Europe PMC] [Abstract]

"Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine."
Sakai T. , Yoshioka A. , Yamamoto K. , Niinomi K. , Fujimura Y. , Fukui H. , Miyata T. , Iwanaga S.
J. Biochem.105:756-759(1989) [PubMed] [Europe PMC] [Abstract]

"Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties."
Ware J. , Diuguid D.L. , Liebman H.A. , Rabiet M.J. , Kasper C.K. , Furie B.C. , Furie B. , Stafford D.W.
J. Biol. Chem.264:11401-11406(1989) [PubMed] [Europe PMC] [Abstract]

"Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins."
Chen S.H. , Thompson A.R. , Zhang M. , Scott C.R.
J. Clin. Invest.84:113-118(1989) [PubMed] [Europe PMC] [Abstract]

"Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B."
Wang N.S. , Zhang M. , Thompson A.R. , Chen S.H.
Thromb. Haemost.63:24-26(1990) [PubMed] [Europe PMC] [Abstract]

"A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm."
Taylor S.A. , Liddell M.B. , Peake I.R. , Bloom A.L. , Lillicrap D.P.
Br. J. Haematol.75:217-221(1990) [PubMed] [Europe PMC] [Abstract]

"Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX."
Bertina R.M. , van der Linden I.K. , Mannucci P.M. , Reinalda-Poot H.H. , Cupers R. , Poort S.R. , Reitsma P.H.
J. Biol. Chem.265:10876-10883(1990) [PubMed] [Europe PMC] [Abstract]

"Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities."
Miyata T. , Sakai T. , Sugimoto M. , Naka H. , Yamamoto K. , Yoshioka A. , Fukui H. , Mitsui K. , Kamiya K. , Umeyama H. , Iwanaga S.
Biochemistry30:11286-11291(1991) [PubMed] [Europe PMC] [Abstract]

"Isoleucine-397 is changed to threonine in two females with hemophilia B."
Sarkar G. , Cassady J.D. , Pyeritz R.E. , Gilchrist G.S. , Sommer S.S.
Nucleic Acids Res.19:1165-1165(1991) [PubMed] [Europe PMC] [Abstract]

"Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX."
Ludwig M. , Sabharwal A.K. , Brackmann H.H. , Olek K. , Smith K.J. , Birktoft J.J. , Bajaj S.P.
Blood79:1225-1232(1992) [PubMed] [Europe PMC] [Abstract]

"Characterization of the original Christmas disease mutation (cysteine 206-->serine): from clinical recognition to molecular pathogenesis."
Taylor S.A. , Duffin J. , Cameron C. , Teitel J. , Garvey B. , Lillicrap D.P.
Thromb. Haemost.67:63-65(1992) [PubMed] [Europe PMC] [Abstract]

"Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B."
David D. , Rosa H.A.V. , Pemberton S. , Diniz M.J. , Campos M. , Lavinha J.
Hum. Mutat.2:355-361(1993) [PubMed] [Europe PMC] [Abstract]

"Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications."
Aguilar-Martinez P. , Romey M.-C. , Schved J.-F. , Gris J.-C. , Demaille J. , Claustres M.
Hum. Genet.94:287-290(1994) [PubMed] [Europe PMC] [Abstract]

"A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient."
Aguilar-Martinez P. , Romey M.-C. , Gris J.-C. , Schved J.-F. , Demaille J. , Claustres M.
Hum. Mutat.3:156-158(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411."
Caglayan S.H. , Vielhaber E. , Guersel T. , Aktuglu G. , Sommer S.S.
Hum. Mutat.4:163-165(1994) [PubMed] [Europe PMC] [Abstract]

"Twenty-five novel mutations of the factor IX gene in haemophilia B."
Wulff K. , Schroeder W. , Wehnert M. , Herrmann F.H.
Hum. Mutat.6:346-348(1995) [PubMed] [Europe PMC] [Abstract]

"A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism."
Chu K. , Wu S.M. , Stanley T. , Stafford D.W. , High K.A.
J. Clin. Invest.98:1619-1625(1996) [PubMed] [Europe PMC] [Abstract]

"Mutations associated with hemophilia B in Turkish patients."
Caglayan S.H. , Goekmen Y. , Aktuglu G. , Guergey A. , Sommer S.S.
Hum. Mutat.10:76-79(1997) [PubMed] [Europe PMC] [Abstract]

"Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome."
Chan V. , Chan V.W.Y. , Yip B. , Chim C.S. , Chan T.K.
Am. J. Hematol.58:72-76(1998) [PubMed] [Europe PMC] [Abstract]

"Five novel factor IX mutations in unrelated hemophilia B patients."
David D. , Moreira I. , Morais S. , de Deus G.
Hum. Mutat. Suppl.1:S301-S303(1998) [PubMed] [Europe PMC] [Abstract]

"Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in Amerindians is similar to the putative endogenous germline pattern."
Heit J.A. , Thorland E.C. , Ketterling R.P. , Lind T.J. , Daniels T.M. , Zapata R.E. , Ordonez S.M. , Kasper C.K. , Sommer S.S.
Hum. Mutat.11:372-376(1998) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene."
Wulff K. , Bykowska K. , Lopaciuk S. , Herrmann F.H.
Acta Biochim. Pol.46:721-726(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of twenty-one new mutations in the factor IX gene by SSCP analysis."
Montejo J.M. , Magallon M. , Tizzano E. , Solera J.
Hum. Mutat.13:160-165(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.23:373-373(1999)

"Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations."
Vidal F. , Farssac E. , Altisent C. , Puig L. , Gallardo D.
Br. J. Haematol.111:549-551(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations."
Onay U.V. , Kavakli K. , Kilinc Y. , Gurgey A. , Aktuglu G. , Kemahli S. , Ozbek U. , Caglayan S.H.
Br. J. Haematol.120:656-659(2003) [PubMed] [Europe PMC] [Abstract]

"Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene."
Espinos C. , Casana P. , Haya S. , Cid A.R. , Aznar J.A.
Haematologica88:235-236(2003) [PubMed] [Europe PMC] [Abstract]

"X-linked thrombophilia with a mutant factor IX (factor IX Padua)."
Simioni P. , Tormene D. , Tognin G. , Gavasso S. , Bulato C. , Iacobelli N.P. , Finn J.D. , Spiezia L. , Radu C. , Arruda V.R.
N. Engl. J. Med.361:1671-1675(2009) [PubMed] [Europe PMC] [Abstract]