Literature DB >> 15521991

Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases.

F M Petit, V Gajdos, J Francoual, L Capel, F Parisot, C Poüs, P Labrune.   

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Year:  2004        PMID： 15521991     DOI： 10.1111/j.1399-0004.2004.00371.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  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

2.  X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

Authors:  Jinli Bai; Yujin Qu; Yanyan Cao; Yan Li; Wenhui Zhang; Yuwei Jin; Hong Wang; Fang Song
Journal:  Mol Med Rep       Date:  2015-12-10       Impact factor: 2.952
  2 in total

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