Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia

Human Mutation

Volumn 9, Issue 4, 1997, Pages 363-365

  Levo, Antii ^a   Partanen, Jukka ^a  

^a Tissue Typing Laboratory   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FAMILY STUDY; FEMALE; GENE DELETION; HAPLOTYPE; HUMAN; MALE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SALT LOSING NEPHRITIS;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; DNA MUTATIONAL ANALYSIS; FEMALE; FINLAND; GENES; HUMANS; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; STEROID 21-HYDROXYLASE;

EID: 0030953107     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<363::AID-HUMU11>3.0.CO;2-0     Document Type: Article

References (9)

1. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y (1986) Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene. Proc Natl Acad Sci USA 83:2841-2845.
2. Morel Y, Miller WL (1991) Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 20:1-68.
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7. Wedell A, Luthman H (1993b) Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet 2:499-504.
8. White PC, New MI, Dupont B (1987) Congenital adrenal hyperplasia. N Engl J Med 316:1519-1524.
9. White PC, Tusie-Luna M-T, New MI, Speiser PW (1994) Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 3:373-378.