Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo; Alejandro D. Nadra; Cecilia Fernández; Melisa Taboas; Noemí Buzzalino; Bárbara Casali; Susana Belli; Eduardo H. Charreau; Liliana Alba; Liliana Dain

doi:10.1371/journal.pone.0015899

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Peer-reviewed

Research Article

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo ,

Contributed equally to this work with: Carolina Minutolo, Alejandro D. Nadra

Affiliations Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina, Departamento de Fisiología Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
⨯
Alejandro D. Nadra ,

Contributed equally to this work with: Carolina Minutolo, Alejandro D. Nadra

Affiliations Departamento de Fisiología Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina, Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
⨯
Cecilia Fernández,

Affiliations Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina, Instituto de Biología y Medicina Experimental, CONICET, Buenos Aires, Argentina
⨯
Melisa Taboas,

Affiliation Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina
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Noemí Buzzalino,

Affiliation Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina
⨯
Bárbara Casali,

Current address: Laboratorio de Citogenética, División de Endocrinología, CEDIE, Hospital de Niños “Dr. Ricardo Gutiérrez”, Buenos Aires, Argentina

Affiliation Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina
⨯
Susana Belli,

Affiliation División Endocrinología, Hospital Durand, Buenos Aires, Argentina
⨯
Eduardo H. Charreau,

Affiliation Instituto de Biología y Medicina Experimental, CONICET, Buenos Aires, Argentina
⨯
Liliana Alba,

Affiliation Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina
⨯
Liliana Dain

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

Affiliations Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina, Instituto de Biología y Medicina Experimental, CONICET, Buenos Aires, Argentina
⨯

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo,
Alejandro D. Nadra,
Cecilia Fernández,
Melisa Taboas,
Noemí Buzzalino,
Bárbara Casali,
Susana Belli,
Eduardo H. Charreau,
Liliana Alba,
Liliana Dain

Published: January 11, 2011
https://doi.org/10.1371/journal.pone.0015899

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