Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: Genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

Clinical Endocrinology

Volumn 75, Issue 4, 2011, Pages 427-435

  Marino, Roxana ^a   Ramirez, Pablo ^a   Galeano, Jesica ^a   Perez Garrido, Natalia ^a   Rocco, Carlos ^a   Ciaccio, Marta ^a   Warman, Diana M ^a   Guercio, Gabriela ^a   Chaler, Eduardo ^a   MacEiras, Mercedes ^a   Bergadá, Ignacio ^b   Gryngarten, Mirta ^b   Balbi, Viviana ^c   Pardes, Esther ^d   Rivarola, Marco A ^a   Belgorosky, Alicia ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^b HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^c Hospital de Ninos Sor Maria Ludovica   (Argentina)

^d HOSPITAL RAMOS MEJÍA   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

CHIMERIC PROTEIN; STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SALT WASTING; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

ADRENAL HYPERPLASIA, CONGENITAL; ARGENTINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; STEROID 21-HYDROXYLASE;

EID: 80052537535     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04123.x     Document Type: Article

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