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Index > Protein center > SLC26A4(Gene name) > Human
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  • SLC26A4 (Gene name),
  • Pendrin (Protein name ),  S26A4_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    SLC26A4(PDS);
    Protein name:
    Pendrin;
    Alternative:
    Solute carrier family 26 member 4;Sodium-independent chloride/iodide transporter;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Sodium-independent transporter of chloride and iodide.
    Subcellular Location:
    Membrane Multi-pass membrane protein
    Protein Attributes:
    Sequence length:
    780
    Sequence:
    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 | 
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    String:
    KEGG:
    MIM:
    SMR:
    Pfam:
    UniGene:
    Uniprot:
     
    FOR
    ELISA Kit for Human Pendrin
    Cat.:
    E1161h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human Pendrin
    Cat.:
    E1161r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human Pendrin
    Cat.:
    E1161m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Pendrin
    Cat.:
    U1161r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Pendrin
    Cat.:
    U1161h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Pendrin
    Cat.:
    U1161m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Pendrin
    Cat.:
    P1161Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Pendrin
    Cat.:
    P1161Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Pendrin
    Cat.:
    P1161Rb-r
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    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
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    Precision
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    Recovery
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    Linearity
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    References
    1. 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. 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. , 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. 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. , 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. 4.
      "The Pendred syndrome gene encodes a chloride-iodide transport protein."
      Scott D.A. , Wang R. , Kreman T.M. , Sheffield V.C. , Karnishki L.P.
      Nat. Genet.21:440-443(1999) [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: FUNCTION
    5. 5.
      [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. 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. 7.
      "A mutation in PDS causes non-syndromic recessive deafness."
      Li X.C. , Everett L.A. , Lalwani A.K. , Desmukh D. , Friedman T.B. , Green E.D. , Wilcox E.R.
      Nat. Genet.18:215-217(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 DFNB4 LEU-490 AND SER-497
    8. 8.
      "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations."
      Usami S. , Abe S. , Weston M.D. , Shinkawa H. , Van Camp G. , Kimberling W.J.
      Hum. Genet.104:188-192(1999) [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 VAL-209; GLU-369; VAL-372; MET-721 AND ARG-723
    9. 9.
      "Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation."
      Masmoudi S. , Charfedine I. , Hmani M. , Grati M. , Ghorbel A.M. , Elgaied-Boulila A. , Drira M. , Hardelin J.-P. , Ayadi M.
      Am. J. Med. Genet.90:38-44(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 TRP-445
    10. 10.
      [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. 11.
      "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus."
      Adato A. , Raskin L. , Petit C. , Bonne-Tamir B.
      Eur. J. Hum. Genet.8:437-442(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 ILE-193
    12. 12.
      "Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene."
      Reardon W. , O'Mahoney C.F. , Trembath R. , Jan H. , Phelps P.D.
      QJM93:99-104(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: VARIANTS DFNB4 PHE-117; VAL-209; PRO-236; MET-410; PRO-416; TRP-445 AND ARG-446
    13. 13.
      "Clinical and molecular analysis of three Mexican families with Pendred's syndrome."
      Gonzalez Trevino O. , Karamanoglu Arseven O. , Ceballos C.J. , Vives V.I. , Ramirez R.C. , Gomez V.V. , Medeiros-Neto G. , Kopp P.
      Eur. J. Endocrinol.144:585-593(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 PHE-138 AND PRO-411
    14. 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.
      "Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment."
      Lopez-Bigas N. , Melchionda S. , de Cid R. , Grifa A. , Zelante L. , Govea N. , Arbones M.L. , Gasparini P. , Estivill X.
      Hum. Mutat.18:548-548(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 TRP-445; HIS-556 AND MET-721;VARIANTS DFNB4 ILE-132 AND MET-410
    16. 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. 17.
      "Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome."
      Taylor J.P. , Metcalfe R.A. , Watson P.F. , Weetman A.P. , Trembath R.C.
      J. Clin. Endocrinol. Metab.87:1778-1784(2002) [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: CHARACTERIZATION OF VARIANTS PDS ARG-102; PHE-117; PHE-138; VAL-209; PRO-236; MET-410; ARG-446; CYS-556 AND GLU-672
    18. 18.
      "Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies."
      Fugazzola L. , Cerutti N. , Mannavola D. , Crino A. , Cassio A. , Gasparoni P. , Vannucchi G. , Beck-Peccoz P.
      Pediatr. Res.51:479-484(2002) [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-28; THR-133; HIS-409 AND MET-410;VARIANT SER-597
    19. 19.
      "Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey."
      Tekin M. , Akcayoez D. , Comak E. , Bogoclu G. , Duman T. , Fitoz S. , Ilhan I. , Akar N.
      Clin. Genet.64:371-374(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 PDS ASP-239 AND ARG-723
    20. 20.
      "Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese."
      Tsukamoto K. , Suzuki H. , Harada D. , Namba A. , Abe S. , Usami S.
      Eur. J. Hum. Genet.11:916-922(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 SER-123; VAL-147 AND PHE-666
    21. 21.
      "Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation."
      Borck G. , Roth C. , Martine U. , Wildhardt G. , Pohlenz J.
      J. Clin. Endocrinol. Metab.88:2916-2921(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 PDS THR-133; PHE-138; GLY-384 AND HIS-530
    22. 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. , 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. 23.
      "Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations."
      Prasad S. , Koelln K.A. , Cucci R.A. , Trembath R.C. , Van Camp G. , Smith R.J.H.
      Am. J. Med. Genet. A124:1-9(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/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. 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. , 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. 25.
      "Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene."
      Napiontek U. , Borck G. , Mueller-Forell W. , Pfarr N. , Bohnert A. , Keilmann A. , Pohlenz J.
      J. Clin. Endocrinol. Metab.89:5347-5351(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: VARIANT PDS PRO-416
    26. 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. 27.
      "Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes."
      Pfarr N. , Borck G. , Turk A. , Napiontek U. , Keilmann A. , Mueller-Forell W. , Kopp P. , Pohlenz J.
      J. Clin. Endocrinol. Metab.91:2678-2681(2006) [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 CYS-776;CHARACTERIZATION OF VARIANT CYS-776
    28. 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. 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. , 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. 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. 31.
      "Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive."
      Alasti F. , Peeters N. , Wuyts W. , Sanati M.H. , Van Camp G.
      Hum. Genet.127:116-116(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 LYS-558
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