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Article

Mutational analysis of patients with X-linked adrenoleukodystrophy.

Human mutation - 1 Jan 1995

Kok F, Neumann S, Sarde C O, Zheng S, Wu K H, Wei H M, Bergin J, Watkins P A, Gould S, Sack G

Abstract excerpt

Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder characterized by elevated very long chain fatty acid (VLCFA) levels, reduced activity of peroxisomal VLCFA-CoA ligase, and variable phenotypic expression. A putative gene for ALD was recently identified and surprisingly encodes a protein (ALDP) that belongs to a family of transmembrane transporters regulated or activated by ATP (the ABC...

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Identifiers

PMID: 7581394
DOI: 10.1002/humu.1380060203

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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