Article
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Hormone research - 1 Jan 2004
Usui Takeshi, Nishisho Kahoru, Kaji Masayuki, Ikuno Noriko, Yorifuji Tohru, Yasuda Toshiyuki, Kuzuya Hideshi, Shimatsu Akira
Abstract excerpt
OBJECTIVE: This study analyzed the mutation of 21-hydroxylase deficiency (21-OHD) in 36 unrelated Japanese patients with congenital adrenal hyperplasia (CAH). METHODS: All the exons of the functional CYP21 gene (CYP21A2) were analyzed by polymerase chain reaction (PCR) and PCR direct sequencing....
Topics
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Alleles
- Amino Acid Substitution
- Base Sequence
- DNA Primers
- Exons
- Female
- Humans
- Japan
- Male
- Mutation
- Mutation, Missense
- Pedigree
- Polymerase Chain Reaction
- Renin
- Sequence Deletion
- Steroid 21-Hydroxylase