"Structure of the human type IV collagen COL4A5 gene."
Zhou J. , Leinonen A. , Tryggvason K.
J. Biol. Chem.269:6608-6614(1994) [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

"Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient."
Zhou J. , Hertz J.M. , Leinonen A. , Tryggvason K.
J. Biol. Chem.267:12475-12481(1992) [PubMed] [Europe PMC] [Abstract]

"Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)."
Pihlajaniemi T. , Pohjolainen E.R. , Myers J.C.
J. Biol. Chem.265:13758-13766(1990) [PubMed] [Europe PMC] [Abstract]

"Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome."
Zhou J. , Hostikka S.L. , Chow L.T. , Tryggvason K.
Genomics9:1-9(1991) [PubMed] [Europe PMC] [Abstract]

"Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome."
Hostikka S.L. , Eddy R.L. , Byers M.G. , Hoeyhtyae M. , Shows T.B. , Tryggvason K.
Proc. Natl. Acad. Sci. U.S.A.87:1606-1610(1990) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus."
Myers J.C. , Jones T.A. , Pohjolainen E.R. , Kadri A.S. , Goddard A.D. , Sheer D. , Solomon E. , Pihlajaniemi T.
Am. J. Hum. Genet.46:1024-1033(1990) [PubMed] [Europe PMC] [Abstract]

Guo C. , van Damme B. , Vanrenterghem Y. , Devriendt K. , Cassiman J.-J. , Marynen P.
Submitted (1994-09) to the EMBL/GenBank/DDBJ databases

"Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain."
Guo C. , van Damme B. , van Damme-Lombaerts R. , van den Berghe H. , Cassiman J.-J. , Marynen P.
Kidney Int.44:1316-1321(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells."
Nakazato H. , Hattori S. , Ushijima T. , Matsuura T. , Koitabashi Y. , Takada T. , Yoshioka K. , Endo F. , Matsuda I.
Kidney Int.46:1307-1314(1994) [PubMed] [Europe PMC] [Abstract]

"The clinical spectrum of type IV collagen mutations."
Lemmink H.H. , Schroeder C.H. , Monnens L.A.H. , Smeets H.J.M.
Hum. Mutat.9:477-499(1997) [PubMed] [Europe PMC] [Abstract]

"Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome."
Zhou J. , Barker D.F. , Hostikka S.L. , Gregory M.C. , Atkin C.L. , Tryggvason K.
Genomics9:10-18(1991) [PubMed] [Europe PMC] [Abstract]

"Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments."
Knebelmann B. , Deschenes G. , Gros F. , Hors M.-C. , Gruenfeld J.-P. , Tryggvason K. , Gubler M.-C. , Antignac C.
Am. J. Hum. Genet.51:135-142(1992) [PubMed] [Europe PMC] [Abstract]

"De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome."
Renieri A. , Seri M. , Myers J.C. , Pihlajaniemi T. , Massella L. , Rizzoni G.F. , de Marchi M.
Hum. Mol. Genet.1:127-129(1992) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome."
Lemmink H.L. , Schroeder C.H. , Brunner H.G. , Nelen M.R. , Zhou J. , Tryggvason K. , Haggsma-Schouten W.A.G. , Roodvoets A.P. , Rascher W. , van Oost B.A. , Smeets H.J.M.
Genomics17:485-489(1993) [PubMed] [Europe PMC] [Abstract]

"Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors."
Zhou J. , Mochizuki T. , Smeets H. , Antignac C. , Laurila P. , de Paepe A. , Tryggvason K. , Reeders S.T.
Science261:1167-1169(1993) [PubMed] [Europe PMC] [Abstract]

"Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients."
Boye E. , Flinter F. , Zhou J. , Tryggvason K. , Bobrow M. , Harris A.
Hum. Mutat.5:197-204(1995) [PubMed] [Europe PMC] [Abstract]

"A mutation causing Alport syndrome with tardive hearing loss is common in the western United States."
Barker D.F. , Pruchno C.J. , Jiang X. , Atkin C.L. , Stone E.M. , Denison J.C. , Fain P.R. , Gregory M.C.
Am. J. Hum. Genet.58:1157-1165(1996) [PubMed] [Europe PMC] [Abstract]

"X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene."
Renieri A. , Bruttini M. , Galli L. , Zanelli P. , Neri T.M. , Rossetti S. , Turco A.E. , Heiskari N. , Zhou J. , Gusmano R. , Massella L. , Banfi G. , Scolari F. , Sessa A. , Rizzoni G.F. , Tryggvason K. , Pignatti P.F. , Savi M. , Ballabio A. , de Marchi M. more...
Am. J. Hum. Genet.58:1192-1204(1996) [PubMed] [Europe PMC] [Abstract]

"Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome."
Knebelmann B. , Breillat C. , Forestier L. , Arrondel C. , Jacassier D. , Giatras I. , Drouot L. , Deschenes G. , Gruenfeld J.-P. , Broyer M. , Gubler M.-C. , Antignac C.
Am. J. Hum. Genet.59:1221-1232(1996) [PubMed] [Europe PMC] [Abstract]

"Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome."
Tverskaya S. , Bobrynina V. , Tsalykova F. , Ignatova M. , Krasnopolskaya X. , Evgrafov O.
Hum. Mutat.7:149-150(1996) [PubMed] [Europe PMC] [Abstract]

"Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q."
Barker D.F. , Denison J.C. , Atkin C.L. , Gregory M.C.
Hum. Genet.99:681-684(1997) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome."
Neri T.M. , Zanelli P. , de Palma G. , Savi M. , Rossetti S. , Turco A.E. , Pignatti G.F. , Galli L. , Bruttini M. , Renieri A. , Mingarelli R. , Trivelli A. , Pinciaroli A.R. , Ragaiolo M. , Rizzoni G.F. , de Marchi M.
Hum. Mutat. Suppl.1:S106-S109(1998) [PubMed] [Europe PMC] [Abstract]

"High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing."
Martin P. , Heiskari N. , Zhou J. , Leinonen A. , Tumelius T. , Hertz J.M. , Barker D.F. , Gregory M.C. , Atkin C.L. , Styrkarsdottir U. , Neumann H. , Springate J. , Shows T.B. , Pettersson E. , Tryggvason K.
J. Am. Soc. Nephrol.9:2291-2301(1998) [PubMed] [Europe PMC] [Abstract]

"Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing."
Inoue Y. , Nishio H. , Shirakawa T. , Nakanishi K. , Nakamura H. , Sumino K. , Nishiyama K. , Iijima K. , Yoshikawa N.
Am. J. Kidney Dis.34:854-862(1999) [PubMed] [Europe PMC] [Abstract]

"Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients."
Cruz-Robles D. , Garcia-Torres R. , Antignac C. , Forestier L. , Garcia de la Puente S. , Correa-Rotter R. , Garcia-Lopez E. , Orozco L.
Clin. Genet.56:242-243(1999) [PubMed] [Europe PMC] [Abstract]

"Detection of mutations in COL4A5 in patients with Alport syndrome."
Plant K.E. , Green P.M. , Vetrie D. , Flinter F.A.
Hum. Mutat.13:124-132(1999) [PubMed] [Europe PMC] [Abstract]

"Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene."
Blasi M.A. , Rinaldi R. , Renieri A. , Petrucci R. , De Bernardo C. , Bruttini M. , Grammatico P.
Am. J. Ophthalmol.130:130-131(2000) [PubMed] [Europe PMC] [Abstract]

"Spectrum of COL4A5 mutations in Finnish Alport syndrome patients."
Martin P. , Heiskari N. , Pajari H. , Groenhagen-Riska C. , Kaeaeriaeinen H. , Koskimies O. , Tryggvason K.
Hum. Mutat.15:579-579(2000) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of COL4A5 gene in Korean Alport syndrome."
Cheong H.I. , Park H.W. , Ha I.S. , Choi Y.
Pediatr. Nephrol.14:117-121(2000) [PubMed] [Europe PMC] [Abstract]

"Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP."
Barker D.F. , Denison J.C. , Atkin C.L. , Gregory M.C.
Am. J. Med. Genet.98:148-160(2001) [PubMed] [Europe PMC] [Abstract]

"Alport syndrome with diffuse leiomyomatosis."
Anker M.C. , Arnemann J. , Neumann K. , Ahrens P. , Schmidt H. , Koenig R.
Am. J. Med. Genet. A119:381-385(2003) [PubMed] [Europe PMC] [Abstract]