Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II.

Yamamoto, K; Sato, H; Fujiyama, Y; Doida, Y; Bamba, T

Yamamoto, K; Sato, H; Fujiyama, Y; Doida, Y; Bamba, T.

Affiliation

Yamamoto K; Second Department of Internal Medicine, Shiga University of Medical Science, Seta-Tsukinowa, Otsu, Shiga, 520-21, Japan.

Biochim Biophys Acta ; 1406(3): 267-73, 1998 Apr 28.

Article in En | MEDLINE | ID: mdl-9630669

Subject(s)

Crigler-Najjar Syndrome/enzymology; Crigler-Najjar Syndrome/genetics; Gilbert Disease/enzymology; Gilbert Disease/genetics; Glucuronosyltransferase/genetics; Mutation, Missense; Animals; Arginine/genetics; Aspartic Acid/genetics; Blotting, Western; COS Cells; Crigler-Najjar Syndrome/classification; Enzyme Activation/genetics; Glucuronosyltransferase/biosynthesis; Glucuronosyltransferase/metabolism; Glycine/genetics; Homozygote; Humans; Phenotype; Transfection; Tyrosine/genetics

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Database: MEDLINE Main subject: Glucuronosyltransferase / Mutation, Missense / Crigler-Najjar Syndrome / Gilbert Disease Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Biochim Biophys Acta Year: 1998 Type: Article Affiliation country: Japan

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