Hiperplasia suprarrenal congénita debida a deficiencia de 17α-hidroxilasa: a propósito de una nueva mutación en el gen CYP17A1-Reference-Cited by-同舟云学术

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Hiperplasia suprarrenal congénita debida a deficiencia de 17α-hidroxilasa: a propósito de una nueva mutación en el gen CYP17A1

Published:2015-01 Issue:1 Volume:82 Page:e64-e67
ISSN:1695-4033
Container-title:Anales de Pediatría
language:es
Short-container-title:Anales de Pediatría

Author:

Perales Martínez J.I.,Pina Marqués B.,de Arriba Muñoz A.,Mayayo Dehesa E.,Labarta Aizpún J.I.,Loidi Fernández L.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference12 articles.

1. Disorders of steroid 17α-hidroxylase deficiency;Kater;Endocrinol Metabol Clin North Am,1994

2. Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenoxin to 11q22, adrenoxin reductase to 17q24-q25 and P450c17 to 10q24-q25;Sparkes;DNA Cell Biol,1991

3. 17-Hidroxylation deficiency in man;Biglieri;J Clin Invest,1966

4. Identification of a common molecular basis for combined 17α-hidroxylase/17,20 lyase deficiency in two Mennonite families;Kagimoto;Hum Genet,1989

5. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17α-hidroxylase deficiency;Costa-Santos;J Clin Endocrinol Metab,2004

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