CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants-Reference-Cited by-同舟云学术

CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants

Published:2017-11-06 Issue:1 Volume:39 Page:5-22
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Simonetti Leandro¹^ORCID,Bruque Carlos D.¹²^ORCID,Fernández Cecilia S.¹,Benavides-Mori Belén¹,Delea Marisol¹,Kolomenski Jorge E.²,Espeche Lucía D.¹,Buzzalino Noemí D.¹,Nadra Alejandro D.³⁴,Dain Liliana¹²⁴^ORCID

Affiliation:

1. Centro Nacional de Genética Médica; ANLIS; Buenos Aires Argentina

2. Instituto de Biología y Medicina Experimental; CONICET; Buenos Aires Argentina

3. Departamento de Química Biológica; Facultad de Ciencias Exactas y Naturales; Universidad de Buenos Aires; IQUIBICEN-CONICET; Buenos Aires Argentina

4. Departamento de Fisiología; Biología Molecular y Celular; Facultad de Ciencias Exactas y Naturales; Universidad de Buenos Aires; Buenos Aires Argentina

Funder

Agencia Nacional de Promoción Científica y Tecnológica

Consejo Nacional de Investigaciones Científicas y Técnicas

Universidad de Buenos Aires

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference158 articles.

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2. Mutation in the CYP21B gene (Ile-172-Asn) causes steroid 21-hydroxylase deficiency;Amor;Proceedings of the National Academy of Sciences of the United States of America,1988

3. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency;Araújo;Journal of Clinical Endocrinology and Metabolism,2007