CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: High regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation

Clinical Chemistry and Laboratory Medicine

Volumn 46, Issue 12, 2008, Pages 1707-1713

  Abid, Fatima ^a   Tardy, Véronique ^b   Gaouzi, Ahmed ^a   El Hessni, Aboubaker ^c   Morel, Yves ^b   Chabraoui, Layachi ^a,d  

^a Hopital d'Enfants   (Morocco)

^b UNIVERSITÉ DE LYON   (France)

^c IBN TOFAIL UNIVERSITY   (Morocco)

^d MOHAMMED V UNIVERSITY   (Morocco)

Author keywords

Congenital adrenal hyperplasia (CAH) salt wasting (SW) and simple virilizing (SV) forms; CYP21A2; Moroccan; p.L353R; p.Q318X

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 21A2; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME MUTATION; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; INFANT; MALE; MOROCCO; NEWBORN; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SALT WASTING; STEROID 21 MONOOXYGENASE DEFICIENCY; TUNISIA; VIRILIZATION;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOROCCO; MUTATION; STEROID 21-HYDROXYLASE;

EID: 57449104175     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2008.339     Document Type: Article

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