A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred

Hormone Research

Volumn 59, Issue 6, 2003, Pages 281-284

  Hafez, Mona ^b   Mazen, Inas ^a   Ghali, Isis ^b   Sultan, Charles ^c,d   Lumbroso, Serge ^c  

^a Cairo University   (Egypt)

^b CAIRO UNIVERSITY   (Egypt)

^c LAPEYRONIE HOSPITAL   (France)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

5 Reductase deficiency; Ambiguous genitalia; Egyptian patients; Mutation

Indexed keywords

ANDROSTANOLONE; CHORIONIC GONADOTROPIN; ISOENZYME; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENITAL MALFORMATION; HETEROZYGOSITY; HORMONE BLOOD LEVEL; HORMONE DETERMINATION; HUMAN; PRIORITY JOURNAL; RESTRICTION MAPPING; SIBLING; TESTOSTERONE BLOOD LEVEL; X CHROMOSOME;

ALANINE; AMINO ACID SUBSTITUTION; ANDROGENS; CHILD; CHILD, PRESCHOOL; DIHYDROTESTOSTERONE; EGYPT; FEMALE; GENDER IDENTITY; GENITALIA; GLUTAMIC ACID; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 0038355137     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000070626     Document Type: Article

References (14)

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