Article
Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes.
Blood cells, molecules & diseases - 1 Jan 2000
Costa Elísio, Vieira Emília, Martins Marcia, Saraiva Jorge, Cancela Eugénia, Costa Miguel, Bauerle Roswitha, Freitas Teresa, Carvalho João R, Santos-Silva Ermelinda, Barbot José, Dos Santos Rosário
Abstract excerpt
We describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler-Najjar syndrome type II, as well as a prenatal diagnosis of Crigler-Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA]7 allele ([TA]7/[TA]7), and one patient was a compound heterozygote for two...
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