Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia

Journal of Human Genetics

Volumn 53, Issue 5, 2008, Pages 401-406

  Vilchis, Felipe ^a   Valdez, Evangelina ^b   Ramos, Luis ^a   García, Rocio ^a   Gómez, Rita ^c   Chávez, Bertha ^a  

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

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c HOSPITAL DE PEDIATRÍA   (Mexico)

Author keywords

46,XY DSD; 5 Reductase; DHT; Genital ambiguity; Hypospadias; Male pseudohermaphroditism; Micropenis; Steroid 5 reductase 2 deficiency

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; CYTOSINE; DINUCLEOTIDE; DNA; GUANINE; NUCLEOTIDE; RECOMBINANT DNA; STEROID 5ALPHA REDUCTASE; STEROID 5ALPHA REDUCTASE 2; TESTOSTERONE;

ALLELE; AMBIGUITY; AMINO ACID COMPOSITION; AMINO ACID SUBSTITUTION; ARTICLE; BIRTH; CASE REPORT; CATALYSIS; CHILD; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBSTRATE; EXON; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; INFANT; KARYOTYPE 46,XY; MALE; MALE PSEUDOHERMAPHRODITISM; MASCULINITY; MICROPENIS; MOLECULAR GENETICS; MUTANT; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

AMINO ACID SUBSTITUTION; CELL LINE; CHILD; CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT; KARYOTYPING; MALE; PEDIGREE; POINT MUTATION; PSEUDOHERMAPHRODITISM; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 43449119494     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0274-2     Document Type: Article

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