Article
Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency.
Human genetics - 1 Jun 1998
Yamaguchi H, Nakazato M, Miyazato M, Toshimori H, Oki S, Shimizu K, Suiko M, Kangawa K, Matsukura S
Abstract excerpt
We report studies of two unrelated Japanese patients with 17alpha-hydroxylase deficiency caused by mutations of the 17alpha-hydroxylase (CYP17) gene. We amplified all eight exons of the CYP17 gene, including the exon-intron boundaries, by the polymerase chain reaction and determined their nucleot...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- DNA Mutational Analysis
- Female
- Gene Expression
- Humans
- Japan
- Mutation
- Polymorphism, Restriction Fragment Length
- RNA Splicing
- Sequence Analysis, DNA
- Sequence Deletion
- Steroid 17-alpha-Hydroxylase