CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions-Reference-Cited by-同舟云学术

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

Published:2006-05 Issue:1 Volume:88 Page:58-65
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Friães Ana,Rêgo Ana Toste,Aragüés José Maria,Moura Luís Francisco,Mirante Alice,Mascarenhas Mário Rui,Kay Teresa Taylor,Lopes Lurdes Afonso,Rodrigues José Cidade,Guerra Sílvia,Dias Teresa,Teles Alberto Galvão,Gonçalves João

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. CYP21 mutations and congenital adrenal hyperplasia;Lee;Clin. Gen.,2001

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

3. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man;White;Proc. Natl. Acad. Sci. USA,1985

4. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene;Higashi;Proc. Natl. Acad. Sci. USA,1986

5. PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module;Lee;Genomics,2004

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