Work

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

Year: 2006

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2005.11.015

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

Institutions: National Institute of Health Dr. Ricardo Jorge, Hospital de Santa Maria, Unidade Local de Saúde de Coimbra, University of Lisbon, Hospital de Dona Estefânia, Hospital Maria Pia

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Fundação para a Ciência e a Tecnologia

OpenAlex ID: W2096113772

FWCI: 2.718

Cites: 39

Cited by: 63

Related to: 10