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Article

The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.

Molecular genetics and metabolism - 1 May 2009

Lee Yann-Jinn, Tsai Li-Ping, Niu Dau-Ming, Shu San-Ging, Chao Mei-Chyn, Lee Hsien-Hsiung

Abstract excerpt

CYP21A2 mutations resulting from microconversions of the CYP21A1P sequence in congenital adrenal hyperplasia (CAH) commonly appear in all populations. However, it has not often been described as being due to the gene founder effect. Herein, we investigated two spontaneous mutations of IVS2+1G>A a...

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Source

Identifiers

PMID: 19201236
DOI: 10.1016/j.ymgme.2009.01.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19201236-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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