Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. - Suppr | 超能文献

Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.

作者信息

Costa Elísio, Vieira Emília, Lopes Ana Isabel, Saldanha Maria Joana, Brites Dora, Dos Santos Rosário

出版信息

Blood Cells Mol Dis. 2009 May-Jun;42(3):265-6. doi: 10.1016/j.bcmd.2008.12.004. Epub 2009 Feb 13.

DOI:10.1016/j.bcmd.2008.12.004

Abstract

摘要

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引用本文的文献

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Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.两名罕见的克里格勒-纳贾尔综合征 I 型无关患者：两名患者均存在 UGT1A1 基因突变，且其中一名患者存在 UGT1A1 基因杂合性丢失。

J Zhejiang Univ Sci B. 2014 May;15(5):474-81. doi: 10.1631/jzus.B1300233.