Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: Identification of possible new mutations and high prevalence of apparent germ-line mutations

Human Genetics

Volumn 102, Issue 2, 1998, Pages 170-177

  Ordoñez Sánchez, Maria Luisa ^a   Ramírez Jiménez, Salvador ^a   López Gutierrez, Antonio Ulises ^a   Riba, Laura ^a   Gamboa Cardiel, Salvador ^a   Cerrillo Hinojosa, Mabel ^b   Altamirano Bustamante, Nelly ^a   Calzada León, Raúl ^a   Robles Valdés, Carlos ^a   Mendoza Morfin, Fernando ^c   Tusié Luna, Maria Teresa ^a  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^b Angeles del Pedregal Mexico City   (Mexico)

^c INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DNA FINGERPRINTING; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; GERM LINE; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MEXICO; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; SEQUENCE ANALYSIS, DNA; STEROID 21-HYDROXYLASE;

EID: 2642651108     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050672     Document Type: Article

References (2)

1. Araujo M, Sánches M, Susuki L, Guerra G, Farah S, De Mello M (1996) Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency. Braz J Med Biol Res 29:1-13
2. Berumen J, Casas L, Hernández A, Segura E, Medina R, Larriva J (1994) Diversidad genética de tres sondas de DNA en la huella digital de DNA de una población Mexicana. Rev Invest Clin 46:457-464