Literature DB >> 12864806

Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency.

L M González-Huerta, M R Riviera-Vega, S H Kofman-Alfeuro, S A Cuevas-Covarrubias.   

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Year:  2003        PMID: 12864806     DOI: 10.1046/j.1365-2265.2003.17851.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN: 0300-0664            Impact factor:   3.478


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  2 in total

1.  STS gene in a pedigree with X-linked ichthyosis.

Authors:  An Liu; Shengxiang Xiao; Shengshun Tan; Xiaobing Lei; Jiang'an Zhang; Ting Jiao; Yan Liu
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2005

2.  Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

Authors:  Jan Idkowiak; Angela E Taylor; Sandra Subtil; Donna M O'Neil; Raymon Vijzelaar; Renuka P Dias; Rakesh Amin; Timothy G Barrett; Cedric H L Shackleton; Jeremy M W Kirk; Celia Moss; Wiebke Arlt
Journal:  J Clin Endocrinol Metab       Date:  2016-03-22       Impact factor: 5.958

  2 in total

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