Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

Melisa Taboas; Luciana Gómez Acuña; María Florencia Scaia; Carlos D. Bruque; Noemí Buzzalino; Mirta Stivel; Nora R. Ceballos; Liliana Dain

doi:10.1371/journal.pone.0092181

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Research Article

Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

Melisa Taboas,

Affiliations Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS), Dr. Carlos G. Malbrán, Buenos Aires, Argentina, Instituto de Biología y Medicina Experimental, Consejo Nacional de Investigaciones Científicas y Técnicas (IBYME-CONICET), Buenos Aires, Argentina
⨯
Luciana Gómez Acuña,

Affiliation Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE), Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires y Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina
⨯
María Florencia Scaia,

Affiliation Departamento de Biodiversidad y Biología Experimental, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires y Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina
⨯
Carlos D. Bruque,

Affiliations Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS), Dr. Carlos G. Malbrán, Buenos Aires, Argentina, Instituto de Biología y Medicina Experimental, Consejo Nacional de Investigaciones Científicas y Técnicas (IBYME-CONICET), Buenos Aires, Argentina
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Noemí Buzzalino,

Affiliation Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS), Dr. Carlos G. Malbrán, Buenos Aires, Argentina
⨯
Mirta Stivel,

Affiliation División Endocrinología, Hospital Durand, Buenos Aires, Argentina
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Nora R. Ceballos ,

Contributed equally to this work with: Nora R. Ceballos, Liliana Dain

Affiliation Departamento de Biodiversidad y Biología Experimental, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires y Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina
⨯
Liliana Dain

Contributed equally to this work with: Nora R. Ceballos, Liliana Dain

* E-mail: ldain@fbmc.fcen.uba.ar

Affiliations Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS), Dr. Carlos G. Malbrán, Buenos Aires, Argentina, Instituto de Biología y Medicina Experimental, Consejo Nacional de Investigaciones Científicas y Técnicas (IBYME-CONICET), Buenos Aires, Argentina
⨯

Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

Melisa Taboas,
Luciana Gómez Acuña,
María Florencia Scaia,
Carlos D. Bruque,
Noemí Buzzalino,
Mirta Stivel,
Nora R. Ceballos,
Liliana Dain

Published: March 25, 2014
https://doi.org/10.1371/journal.pone.0092181

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