Mutations of the 5α-steroid reductase type 2 gene in six Turkish patients from unrelated families and a large pedigree of an isolated Turkish village

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue 4, 2002, Pages 411-421

  Ocal G ^a   Adiyaman, P ^a   Berberoglu M ^a   Cetinkaya E ^a   Akar, N ^a   Uysal, A ^a   Duman, T ^a   Evliyaoglu O ^a   Aycan, Z ^a   Lumbrasso, S ^a   Sultan, C ^a  

^a ANKARA UNIVERSITY   (Turkey)

Author keywords

5 steroid reductase 2 gene mutation; Homozygous female carriers; Male pseudohermaphroditism

Indexed keywords

ARGININE; GENOMIC DNA; GLUTAMINE; LEUCINE; SERINE; STEROID 5ALPHA REDUCTASE; CHORIONIC GONADOTROPIN; DIAGNOSTIC AGENT;

5ALPHA STEROID REDUCTASE TYPE 2 DEFICIENCY; ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE CARRIER; DISEASE TRANSMISSION; DNA DETERMINATION; EXON; FAMILY; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOSPADIAS; INFANT; INGUINAL REGION; INTRON; MALE; MALE PSEUDOHERMAPHRODITISM; NEWBORN; PEDIGREE; PENIS; PHENOTYPE; RISK ASSESSMENT; SCHOOL CHILD; SCROTUM; SOCIOECONOMICS; TURKEY (REPUBLIC); CHILD; CONGENITAL MALFORMATION; DRUG EFFECT; ECHOGRAPHY; GENETICS; GENITAL SYSTEM; HERMAPHRODITISM; HETEROZYGOTE; HOMOZYGOTE; KARYOTYPING; LEYDIG CELL; MUTATION; NUCLEOTIDE SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; CHILD; CHORIONIC GONADOTROPIN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENITALIA; HERMAPHRODITISM; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; LEYDIG CELLS; MALE; MUTATION; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TESTOSTERONE 5-ALPHA-REDUCTASE; TURKEY;

EID: 0036013686     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2002.15.4.411     Document Type: Article

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