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Article

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

World journal of pediatrics : WJP - 1 Nov 2015

Chu Shan-Shan, Ye Jun, Zhang Hui-Wen, Han Lian-Shu, Qiu Wen-Juan, Gao Xiao-Lan, Gu Xue-Fan

Abstract excerpt

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. This study aimed to retrospectively investigate the clinical characteristics of 25 patients with X-ALD including members of large pedigrees, to analyze ABCD1 gene mutations, the effect of gene novel variants on ALD protein (ALDP) structure and...

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Source

Identifiers

PMID: 26454440
DOI: 10.1007/s12519-015-0044-0

Genes

ABCD1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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