Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: The P212R substitution of the steroid 5a-reductase 2 may constitute an ancestral founder mutation in Mexican patients

Journal of Andrology

Volumn 31, Issue 4, 2010, Pages 358-364

  Vilchis, Felipe ^a   Ramos, Luis ^a   Méndez, Juan Pablo ^a   Benavides, Socorro ^a   Canto, Patricia ^b   Chávez, Bertha ^a  

^a INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^b CENTRO MÉDICO NACIONAL 20 DE NOVIEMBRE   (Mexico)

Author keywords

46,XY DSD; Gene founder effect; Genotype phenotype correlation; Mutations; Steroid 5 reductase 2 deficiency

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; GENOMIC DNA; GLUTAMIC ACID; GLYCINE; PROLINE; SERINE; STEROID 5ALPHA REDUCTASE 2;

ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA ISOLATION; EMBRYO; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INFANT; KARYOTYPE 46,XY; MALE; MEXICO; MUTANT; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; VIRILIZATION;

EID: 77957835969     PISSN: 01963635     EISSN: 19394640     Source Type: Journal    
DOI: 10.2164/jandrol.109.009407     Document Type: Article

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