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Literature DB >> 16456422

Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.

Yoshihiro Maruo¹, Ali K Topaloglu, Hiroko Takahashi, Asami Mori, Masaru Iwai, Oznur Duzovali, Kazuo Yamamoto, Katsuyuki Matui, Hiroshi Sato, Yoshihiro Takeuchi.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2006 PMID： 16456422 DOI： 10.1097/01.mpg.0000184922.09389.0a

Source DB: PubMed Journal: J Pediatr Gastroenterol Nutr ISSN： 0277-2116 Impact factor: 2.839

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2 in total

1. Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

Authors: Lufeng Li; Guohong Deng; Yi Tang; Qing Mao
Journal: PLoS One Date: 2015-05-20 Impact factor: 3.240

2. UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.

Authors: Kuerbanjiang Abuduxikuer; Ling-Juan Fang; Li-Ting Li; Jing-Yu Gong; Jian-She Wang
Journal: Medicine (Baltimore) Date: 2018-12 Impact factor: 1.817

2 in total