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Article

Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.

Clinical chemistry and laboratory medicine - 1 Jan 2008

Wang Zhihong, Ke Longfeng, Yan Aizhen, Zhu Zhongyong, Lan Fenghua

Abstract excerpt

BACKGROUND: Mutations in the ABCD1 gene lead to X-linked adrenoleukodystrophy, a neurodegenerative disorder. Hundreds of hereditary mutations of the gene have been reported in patients with X-linked adrenoleukodystrophy, but there have been no reports of de novo mutations. METHODS: The coding reg...

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Source

Identifiers

PMID: 18973459
DOI: 10.1515/CCLM.2008.331

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18973459-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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