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[Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2003

Shi Xiao-rong, Chen Yu-cai, Xie Wen-huang, Huang Mei-fang, Hou Xiao-jun, Wang Ning

Abstract excerpt

OBJECTIVE: To elucidate the molecular mechanism of X-linked adrenoleukodystrophy(ALD) in Chinese. METHODS: Polymerase chain reaction in exon 1, exon 5 and their flanking sequences and direct DNA sequencing of ALD gene were performed in four patients, their mothers and twenty normal individuals as controls. RESULTS: A splice mutation was identified in the interface of exon 5 and intron 5 (1875 G-->A). This splice...

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PMID: 12579499

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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