Protein name:
Pendrin ;
Alternative:
Solute carrier family 26 member 4 ;Sodium-independent chloride/iodide transporter ;
Organism:
Human (Homo sapiens).
General Annotation
Function:
Sodium-independent transporter of chloride and iodide.
Subcellular Location:
Membrane
Multi-pass membrane protein
Protein Attributes:
50:
MAAPGGRSEP | PQLPEYSCSY | MVSRPVYSEL | AFQQQHERRL | QERKTLRESL |
100:
AKCCSCSRKR | AFGVLKTLVP | ILEWLPKYRV | KEWLLSDVIS | GVSTGLVATL |
150:
QGMAYALLAA | VPVGYGLYSA | FFPILTYFIF | GTSRHISVGP | FPVVSLMVGS |
200:
VVLSMAPDEH | FLVSSSNGTV | LNTTMIDTAA | RDTARVLIAS | ALTLLVGIIQ |
250:
LIFGGLQIGF | IVRYLADPLV | GGFTTAAAFQ | VLVSQLKIVL | NVSTKNYNGV |
300:
LSIIYTLVEI | FQNIGDTNLA | DFTAGLLTIV | VCMAVKELND | RFRHKIPVPI |
350:
PIEVIVTIIA | TAISYGANLE | KNYNAGIVKS | IPRGFLPPEL | PPVSLFSEML |
400:
AASFSIAVVA | YAIAVSVGKV | YATKYDYTID | GNQEFIAFGI | SNIFSGFFSC |
450:
FVATTALSRT | AVQESTGGKT | QVAGIISAAI | VMIAILALGK | LLEPLQKSVL |
500:
AAVVIANLKG | MFMQLCDIPR | LWRQNKIDAV | IWVFTCIVSI | ILGLDLGLLA |
550:
GLIFGLLTVV | LRVQFPSWNG | LGSIPSTDIY | KSTKNYKNIE | EPQGVKILRF |
600:
SSPIFYGNVD | GFKKCIKSTV | GFDAIRVYNK | RLKALRKIQK | LIKSGQLRAT |
650:
KNGIISDAVS | TNNAFEPDED | IEDLEELDIP | TKEIEIQVDW | NSELPVKVNV |
700:
PKVPIHSLVL | DCGAISFLDV | VGVRSLRVIV | KEFQRIDVNV | YFASLQDYVI |
750:
EKLEQCGFFD | DNIRKDTFFL | TVHDAILYLQ | NQVKSQEGQG | SILETITLIQ |
780:
DCKDTLELIE | TELTEEELDV | QDEAMRTLAS |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rat
Mouse
ELISA Kit for Human Pendrin
ELISA Kit for Human Pendrin
ELISA Kit for Human Pendrin
CLIA Kit for Human Pendrin
CLIA Kit for Human Pendrin
CLIA Kit for Human Pendrin
Polyclonal Antibody for Human Pendrin
Polyclonal Antibody for Human Pendrin
Polyclonal Antibody for Human Pendrin
Monoclonal Antibody for Human Pendrin
Monoclonal Antibody for Human Pendrin
Monoclonal Antibody for Human Pendrin
Protein for Human Pendrin
Protein for Human Pendrin
Protein for Human Pendrin
R&D Technical Data
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Precision
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Recovery
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Linearity
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
References
1.
"Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)."
Everett L.A.
,
Glaser B.
,
Beck J.C.
,
Idol J.R.
,
Buchs A.
,
Heyman M.
,
Adawi F.
,
Hazani E.
,
Nassir E.
,
Baxevanis A.D.
,
Sheffield V.C.
,
Green E.D.
Nat. Genet.17:411-422(1997)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT PDS CYS-667
tissue :
Thyroid .
2.
"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 ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue :
Amygdala .
3.
"The DNA sequence of human chromosome 7."
Hillier L.W.
,
Fulton R.S.
,
Fulton L.A.
,
Graves T.A.
,
Pepin K.H.
,
Wagner-McPherson C.
,
Layman D.
,
Maas J.
,
Jaeger S.
,
Walker R.
,
Wylie K.
,
Sekhon M.
,
Becker M.C.
,
O'Laughlin M.D.
,
Schaller M.E.
,
Fewell G.A.
,
Delehaunty K.D.
,
Miner T.L.
,
Nash W.E.
,
Cordes M.
,
Du H.
,
Sun H.
,
Edwards J.
,
Bradshaw-Cordum H.
,
Ali J.
,
Andrews S.
,
Isak A.
,
Vanbrunt A.
,
Nguyen C.
,
Du F.
,
Lamar B.
,
Courtney L.
,
Kalicki J.
,
Ozersky P.
,
Bielicki L.
,
Scott K.
,
Holmes A.
,
Harkins R.
,
Harris A.
,
Strong C.M.
,
Hou S.
,
Tomlinson C.
,
Dauphin-Kohlberg S.
,
Kozlowicz-Reilly A.
,
Leonard S.
,
Rohlfing T.
,
Rock S.M.
,
Tin-Wollam A.-M.
,
Abbott A.
,
Minx P.
,
Maupin R.
,
Strowmatt C.
,
Latreille P.
,
Miller N.
,
Johnson D.
,
Murray J.
,
Woessner J.P.
,
Wendl M.C.
,
Yang S.-P.
,
Schultz B.R.
,
Wallis J.W.
,
Spieth J.
,
Bieri T.A.
,
Nelson J.O.
,
Berkowicz N.
,
Wohldmann P.E.
,
Cook L.L.
,
Hickenbotham M.T.
,
Eldred J.
,
Williams D.
,
Bedell J.A.
,
Mardis E.R.
,
Clifton S.W.
,
Chissoe S.L.
,
Marra M.A.
,
Raymond C.
,
Haugen E.
,
Gillett W.
,
Zhou Y.
,
James R.
,
Phelps K.
,
Iadanoto S.
,
Bubb K.
,
Simms E.
,
Levy R.
,
Clendenning J.
,
Kaul R.
,
Kent W.J.
,
Furey T.S.
,
Baertsch R.A.
,
Brent M.R.
,
Keibler E.
,
Flicek P.
,
Bork P.
,
Suyama M.
,
Bailey J.A.
,
Portnoy M.E.
,
Torrents D.
,
Chinwalla A.T.
,
Gish W.R.
,
Eddy S.R.
,
McPherson J.D.
,
Olson M.V.
,
Eichler E.E.
,
Green E.D.
,
Waterston R.H.
,
Wilson R.K.
more...
Nature424:157-164(2003)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
4.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION
5.
"Two frequent missense mutations in Pendred syndrome."
van Hauwe P.
,
Everett L.A.
,
Coucke P.
,
Scott D.A.
,
Kraft M.L.
,
Ris-Stalpers C.
,
Bolder C.
,
Otten B.
,
de Vijlder J.J.M.
,
Dietrich N.L.
,
Ramesh A.
,
Srisailapathy S.C.R.
,
Parving A.
,
Cremers C.W.R.J.
,
Willems P.J.
,
Smith R.J.H.
,
Green E.D.
,
van Camp G.
Hum. Mol. Genet.7:1099-1104(1998)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; HIS-409; PRO-416; TRP-445; TYR-565 AND ARG-723
6.
"Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)."
Coyle B.
,
Reardon W.
,
Herbrick J.-A.
,
Tsui L.-C.
,
Gausden E.
,
Lee J.
,
Coffey R.
,
Grueters A.
,
Grossman A.
,
Phelps P.D.
,
Luxon L.
,
Kendall-Taylor P.
,
Scherer S.W.
,
Trembath R.C.
Hum. Mol. Genet.7:1105-1112(1998)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS PHE-138; PRO-236; GLY-384; HIS-409; MET-410; PRO-416; HIS-530; CYS-556 AND GLU-672
7.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS DFNB4 LEU-490 AND SER-497
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS DFNB4 VAL-209; GLU-369; VAL-372; MET-721 AND ARG-723
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT PDS TRP-445
10.
"A novel mutation in the pendrin gene associated with Pendred's syndrome."
Bogazzi F.
,
Raggi F.
,
Ultimieri F.
,
Campomori A.
,
Cosci C.
,
Berrettini S.
,
Neri E.
,
La Rocca R.
,
Ronca G.
,
Martino E.
,
Bartalena L.
Clin. Endocrinol. (Oxf.)52:279-285(2000)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT PDS ASN-508
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT PDS ILE-193
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS DFNB4 PHE-117; VAL-209; PRO-236; MET-410; PRO-416; TRP-445 AND ARG-446
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS PHE-138 AND PRO-411
14.
"Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations."
Campbell C.
,
Cucci R.A.
,
Prasad S.
,
Green G.E.
,
Edeal J.B.
,
Galer C.E.
,
Karniski L.P.
,
Sheffield V.C.
,
Smith R.J.H.
Hum. Mutat.17:403-411(2001)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS GLN-29; CYS-105; ASP-106; PHE-138; VAL-209; PRO-236; LEU-335; PRO-416; ASP-480; HIS-530; ALA-653 AND GLU-672;VARIANT SER-597
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS TRP-445; HIS-556 AND MET-721;VARIANTS DFNB4 ILE-132 AND MET-410
16.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ERRATUM
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : CHARACTERIZATION OF VARIANTS PDS ARG-102; PHE-117; PHE-138; VAL-209; PRO-236; MET-410; ARG-446; CYS-556 AND GLU-672
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS ARG-28; THR-133; HIS-409 AND MET-410;VARIANT SER-597
19.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS ASP-239 AND ARG-723
20.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS DFNB4 SER-123; VAL-147 AND PHE-666
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS THR-133; PHE-138; GLY-384 AND HIS-530
22.
"Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness."
Park H.-J.
,
Shaukat S.
,
Liu X.-Z.
,
Hahn S.H.
,
Naz S.
,
Ghosh M.
,
Kim H.-N.
,
Moon S.-K.
,
Abe S.
,
Tukamoto K.
,
Riazuddin S.
,
Kabra M.
,
Erdenetungalag R.
,
Radnaabazar J.
,
Khan S.
,
Pandya A.
,
Usami S.
,
Nance W.E.
,
Wilcox E.R.
,
Riazuddin S.
,
Griffith A.J.
more...
J. Med. Genet.40:242-248(2003)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS DFNB4 ARG-28; LEU-90; ASP-239; PRO-252; TYR-392; PRO-409; MET-410; PHE-455; LYS-457; GLN-676; MET-721 AND ARG-723
23.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS/DFNB4 GLY-24; GLN-29; CYS-78; VAL-104; CYS-105; ASP-106; PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; LEU-335; GLY-384; HIS-409; MET-410; PRO-416; ARG-421; ALA-429 DEL; TRP-445; ASP-480; HIS-530; CYS-556; TYR-565; ALA-653; GLU-672; SER-683 AND ARG-723;VARIANTS TYR-324 AND SER-597
24.
"Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity."
Blons H.
,
Feldmann D.
,
Duval V.
,
Messaz O.
,
Denoyelle F.
,
Loundon N.
,
Sergout-Allaoui A.
,
Houang M.
,
Duriez F.
,
Lacombe D.
,
Delobel B.
,
Leman J.
,
Catros H.
,
Journel H.
,
Drouin-Garraud V.
,
Obstoy M.-F.
,
Toutain A.
,
Oden S.
,
Toublanc J.E.
,
Couderc R.
,
Petit C.
,
Garabedian E.-N.
,
Marlin S.
more...
Clin. Genet.66:333-340(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS GLN-29; CYS-78; PRO-137; PHE-138; ILE-193; VAL-209; PRO-236; ASN-391; HIS-409; MET-410; PRO-416; TRP-445; HIS-530; ILE-552; PRO-694; MET-721 AND ASN-724;VARIANT SER-597
25.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT PDS PRO-416
26.
"SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities."
Pryor S.P.
,
Madeo A.C.
,
Reynolds J.C.
,
Sarlis N.J.
,
Arnos K.S.
,
Nance W.E.
,
Yang Y.
,
Zalewski C.K.
,
Brewer C.C.
,
Butman J.A.
,
Griffith A.J.
J. Med. Genet.42:159-165(2005)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS ARG-514 AND SER-530;VARIANTS GLY-609 AND CYS-776
27.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT CYS-776;CHARACTERIZATION OF VARIANT CYS-776
28.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MET-99
29.
"Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?"
Choi B.Y.
,
Stewart A.K.
,
Madeo A.C.
,
Pryor S.P.
,
Lenhard S.
,
Kittles R.
,
Eisenman D.
,
Kim H.J.
,
Niparko J.
,
Thomsen J.
,
Arnos K.S.
,
Nance W.E.
,
King K.A.
,
Zalewski C.K.
,
Brewer C.C.
,
Shawker T.
,
Reynolds J.C.
,
Butman J.A.
,
Karniski L.P.
,
Alper S.L.
,
Griffith A.J.
more...
Hum. Mutat.30:599-608(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PDS PHE-138; VAL-209; PRO-236; GLY-384; MET-402; PRO-416; TRP-445; ARG-514; HIS-530; TYR-565 AND THR-775;VARIANTS DFNB4 LEU-335; MET-402; SER-530 AND THR-775;VARIANTS SER-597; GLY-609 AND CYS-776
30.
"Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA)."
Pourova R.
,
Janousek P.
,
Jurovcik M.
,
Dvorakova M.
,
Malikova M.
,
Raskova D.
,
Bendova O.
,
Leonardi E.
,
Murgia A.
,
Kabelka Z.
,
Astl J.
,
Seeman P.
Ann. Hum. Genet.74:299-307(2010)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT DFNB4 ILE-281;VARIANTS VAL-6; ALA-144; THR-185 AND SER-597
31.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT DFNB4 LYS-558