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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. RESULTS: Apparent gene deletions and conversions were present in 23.6% of the 72 CAH alleles, in which the most...

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PMID: 14676460
DOI: 10.1159/000075587

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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