Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

Author:

Araújo Rogério S.1,Mendonca Berenice B.1,Barbosa Ângela S.2,Lin Chin J.1,Marcondes José A. M.1,Billerbeck Ana Elisa C.1,Bachega Tânia A. S. S.1

Affiliation:

1. Unidade de Endocrinologia do Desenvolvimento e Laboratorio de Hormonios e Genetica Molecular (R.S.A., B.B.M., C.J.L., J.A.M.M., A.E.C.B., T.A.S.S.B.), LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, SP 05403-900, Brazil

2. Centro de Biotecnologia (A.S.B.), Instituto Butantan, 05504-900 Sao Paulo, SP, Brazil

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference39 articles.

1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.;White;Endocr Rev,2000

2. Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.;Levine;J Clin Endocrinol Metab,1980

3. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.;Speiser;J Clin Invest,1992

4. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.;Wedell;J Clin Endocrinol Metab,1994

5. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.;Wilson;J Clin Endocrinol Metab,1995

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