A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family

Hormone Research

Volumn 51, Issue 3, 1999, Pages 135-141

  Ezquieta, Begoǹa ^a   Oyarzabal M ^b   Jariego, C M ^a   Varela, J M ^a   Chueca, M ^b  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b Universidad Pública de Navarra   (Spain)

Author keywords

Consanguinity; Frameshift mutation; Steroid 21 hydroxylase gene

Indexed keywords

MICROSATELLITE DNA; STEROID 21 MONOOXYGENASE;

ADULT; ARTICLE; CASE REPORT; CONSANGUINITY; ENZYME DEFICIENCY; EXON; FAMILY; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC SCREENING; HLA SYSTEM; HOMOZYGOSITY; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SALT LOSING NEPHRITIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; EXONS; FRAMESHIFT MUTATION; GENE FREQUENCY; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; STEROID 21-HYDROXYLASE;

EID: 0345411365     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000023346     Document Type: Article

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