Literature DB >> 19320038

Novel human pathological mutations. Gene symbol: CYP17A1. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.

Fengxia Yao1, Tian qinjie.   

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Year:  2009        PMID: 19320038

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


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  1 in total

1.  CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.

Authors:  Daw-Yang Hwang; Chi-Chih Hung; Felix G Riepe; Richard J Auchus; Alexandra E Kulle; Paul-Martin Holterhus; Mei-Chyn Chao; Mei-Chuan Kuo; Shang-Jyh Hwang; Hung-Chun Chen
Journal:  PLoS One       Date:  2011-09-26       Impact factor: 3.240

  1 in total

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