Literature DB >> 16500637

A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH).

Paola Concolino, Cinzia Carrozza, Angelo Minucci, Concetta Santonocito, Franco Ameglio, Cecilia Zuppi, Ettore Capoluongo.   

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Year:  2006        PMID： 16500637     DOI： 10.1016/j.cca.2006.01.013

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  1 in total

1.  Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.

Authors:  Cecilia S Fernández; Carlos D Bruque; Melisa Taboas; Noemí D Buzzalino; Lucia D Espeche; Titania Pasqualini; Eduardo H Charreau; Liliana G Alba; Pablo D Ghiringhelli; Liliana Dain
Journal:  Endocrine       Date:  2015-07-17       Impact factor: 3.633
  1 in total

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