title: Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population.
authors.affiliation: Department of Pediatrics, New York Hospital-Cornell Medical College, New York 10021.
authors.forename: P W
authors.initials: PW
authors.lastname: Speiser
authors.forename: M I
authors.initials: MI
authors.lastname: New
authors.forename: G M
authors.initials: GM
authors.lastname: Tannin
authors.forename: D
authors.initials: D
authors.lastname: Pickering
authors.forename: S Y
authors.initials: SY
authors.lastname: Yang
authors.forename: P C
authors.initials: PC
authors.lastname: White
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000276:immunology; D006801:Humans; D004930:Inuit / Q000235:genetics*; D008297:Male; D009154:Mutation; D015345:Oligonucleotide Probes
chemical_list: D006680:HLA Antigens; D015345:Oligonucleotide Probes