A recurrent p.Arg92Trp variant in steroidogenic factor-1...

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Human Molecular Genetics 2016 / 07

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Bashamboo, Anu, Donohoue, Patricia A, Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukulta, Surya N
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Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddw186
Date:
July, 2016
File:
PDF, 1.89 MB
english, 2016
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