Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family

Journal of Pediatric Endocrinology and Metabolism

Volumn 16, Issue 8, 2003, Pages 1197-1201

  Lee, Ching Yin ^a   Lam, Ching Wan ^b   Shek, Chi Chung ^c  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c QUEEN ELIZABETH HOSPITAL   (Hong Kong)

Author keywords

Mutation; SRD5A2; Steroid 5 reductase 2 deficiency

Indexed keywords

ADENINE; CYTOSINE; GUANINE; STEROID 5ALPHA REDUCTASE; GLUTAMINE; ISOENZYME;

ADULTHOOD; ARTICLE; CASE REPORT; CHILD; CHINESE; CHROMOSOME ANALYSIS; CODON; CONSANGUINITY; ENZYME DEFICIENCY; EXON; FAMILY; HOMOZYGOSITY; HUMAN; MALE; MICROPENIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; STEROID 5ALPHA REDUCTASE DEFICIENCY; VIRILIZATION; ASIAN; BIOSYNTHESIS; CHINA; COMPARATIVE STUDY; CONGENITAL MALFORMATION; FAMILY SIZE; GENETICS; HOMOZYGOTE; KARYOTYPING; METABOLISM; METHODOLOGY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PENIS; POINT MUTATION;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; CODON; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FAMILY CHARACTERISTICS; GLUTAMINE; HOMOZYGOTE; HUMANS; ISOENZYMES; KARYOTYPING; MALE; MIDDLE AGED; MUTATION, MISSENSE; PENIS; POINT MUTATION; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 0242288533     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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