Literature DB >> 21297505

Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.

Yoshihiro Maruo1, Funda Ozgenc, Yu Mimura, Yoriko Ota, Katsuyuki Matsui, Hiroko Takahashi, Asami Mori, Takashi Taga, Tomoyuki Takano, Hiroshi Sato, Yoshihiro Takeuchi.   

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Year:  2011        PMID： 21297505     DOI： 10.1097/MPG.0b013e3181fcafb8

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


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  5 in total

1.  Contribution of UGT1A1 variations to chemotherapy-induced unconjugated hyperbilirubinemia in pediatric leukemia patients.

Authors:  Akitaka Nomura; Yoshihiro Maruo; Takashi Taga; Yoshihiro Takeuchi
Journal:  Pediatr Res       Date:  2016-04-08       Impact factor: 3.756

2.  Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.

Authors:  Yan Li; Yu-jin Qu; Xue-mei Zhong; Yan-yan Cao; Li-min Jin; Jin-li Bai; Xin Ma; Yu-wei Jin; Hong Wang; Yan-ling Zhang; Fang Song
Journal:  J Zhejiang Univ Sci B       Date:  2014-05       Impact factor: 3.066

3.  Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.

Authors:  Bixia Zheng; Guorui Hu; Jin Yu; Zhifeng Liu
Journal:  BMC Pediatr       Date:  2014-10-15       Impact factor: 2.125

4.  Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndrome.

Authors:  Xianbo Wang; Yanmin Liu; Yujuan Chang; Huimin Liu; Peng Wang
Journal:  Eur J Med Res       Date:  2014-09-28       Impact factor: 2.175

5.  Effect of the genetic mutant G71R in uridine diphosphate-glucuronosyltransferase 1A1 on the conjugation of bilirubin.

Authors:  Hong Chen; Danni Zhong; Zongyan Gao; Xiaojing Wu
Journal:  Open Life Sci       Date:  2022-03-18       Impact factor: 0.938
  5 in total

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