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Volumn 85, Issue 35, 2005, Pages 2468-2471

A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome

Author keywords

Chromosome abnormalities; Gene; Mutation; Wolfram syndrome

Indexed keywords

AMINO ACID; GENE PRODUCT; GENOMIC DNA; PHENYLALANINE; PROTEIN WFS1; UNCLASSIFIED DRUG;

EID: 25844463599     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (8)
  • 1
    • 0000804149 scopus 로고
    • Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
    • Wolfram D, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc, 1938, 13: 715-718.
    • (1938) Mayo Clin. Proc. , vol.13 , pp. 715-718
    • Wolfram, D.1    Wagener, H.P.2
  • 2
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet, 1995, 345:1458-1463.
    • (1995) Lancet , vol.345 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    Macleod, A.F.3
  • 3
    • 0028822208 scopus 로고
    • Morbidity and mortality in the Wolfram syndrome
    • Kinsley BT, Swift M, Dumont RH, et al. Morbidity and mortality in the Wolfram syndrome. Diabetes Care, 1995, 18:1566-1570.
    • (1995) Diabetes Care , vol.18 , pp. 1566-1570
    • Kinsley, B.T.1    Swift, M.2    Dumont, R.H.3
  • 4
    • 17344362695 scopus 로고    scopus 로고
    • A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic (Wolfram syndrome)
    • Inoue H, Tanizawa Y, Wasson J, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic (Wolfram syndrome). Nature Genet, 1998,20:143-148.
    • (1998) Nature Genet. , vol.20 , pp. 143-148
    • Inoue, H.1    Tanizawa, Y.2    Wasson, J.3
  • 5
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
    • Strom TM, Hortnagel K, Hofmann S, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Molec. Genet, 1998, 7:2021-2028.
    • (1998) Hum. Molec. Genet. , vol.7 , pp. 2021-2028
    • Strom, T.M.1    Hortnagel, K.2    Hofmann, S.3
  • 6
    • 0033361879 scopus 로고    scopus 로고
    • Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutation in WFS1
    • Hardy C, Khanim F, Torres R, et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutation in WFS1. Am J Hum Genet, 1999, 65:1279-1290.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1279-1290
    • Hardy, C.1    Khanim, F.2    Torres, R.3
  • 7
    • 0033045114 scopus 로고    scopus 로고
    • Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1)
    • Gerbitz KD. Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1). Diadetologia, 1999, 42:627-630.
    • (1999) Diadetologia , vol.42 , pp. 627-630
    • Gerbitz, K.D.1
  • 8
    • 0041919371 scopus 로고    scopus 로고
    • Wolfram syndrome: Structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
    • Hofmann S, Philbrook CB, Gerbitz KD, et al. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet, 2003, 12:2003-2012.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2003-2012
    • Hofmann, S.1    Philbrook, C.B.2    Gerbitz, K.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.