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Volumn 86, Issue 2, 2007, Pages 102-106

Evidence of a novel gene for the LAV-syndrome;Hinweise für ein zusätzliches gen für das LAV-syndrom

Author keywords

Haplotype analysis; LAV syndrome; Mutation analysis; SLC26A4 gene

Indexed keywords

HYDROXYAMPHETAMINE;

EID: 34247105691     PISSN: 09358943     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-944746     Document Type: Article
Times cited : (4)

References (24)
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    • Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. AmJ Med Genet 1999; 82: 322-328
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  • 12
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    • Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
    • Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci USA 2001; 98: 4221-4226
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 4221-4226
    • Royaux, I.E.1    Wall, S.M.2    Karniski, L.P.3    Everett, L.A.4    Suzuki, K.5    Knepper, M.A.6    Green, E.D.7
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    • Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
    • Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci USA 2001 ; 98: 4221-4226
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 4221-4226
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    • Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Amos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ. 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. J Med Genet 2005; 42: 159-165
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.