Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

doi:10.1007/BF00206965

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Article

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Human genetics - 1 Dec 1994

Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury N R, Chowdhury J R, Munnich A, Odièvre M

Abstract excerpt

Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver. Two B-UGTs are coded for by a gene complex (UGT1) that maps to chromosome 2q...

Topics

Crigler-Najjar Syndrome
Female
Genetic Heterogeneity
Humans
Infant, Newborn
Male
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational

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