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Article

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

Clinical genetics - 1 Jun 1998

Holzinger A, Maier E, Stöckler-Ipsiroglu S, Braun A, Roscher A A

Abstract excerpt

We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. It leads to a translation product lacking the 74 C-terminal amino acids. As a consequence of the loss of this...

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Identifiers

PMID: 9712540
DOI: 10.1111/j.1399-0004.1998.tb02600.x

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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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