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Article

Three novel variants in X-linked adrenoleukodystrophy.

Journal of child neurology - 1 Jul 2009

Shukla Pallavi, Gupta Neerja, Kabra Madhulika, Ghosh Manju, Sharma Raju, Gupta Arun K, Gulati Sheffali, Kalra Veena

Abstract excerpt

X-linked adrenoleukodystrophy is an inherited neurological disorder caused by mutations in the ABCD1 gene (located on chromosome Xq28) encoding adrenoleukodystrophy protein which is involved in the transport of substrates from the cytoplasm into the peroxisomal lumen. There is a scarcity of reports on mutation analysis of X-linked adrenoleukodystrophy from India. Here, we report 3 novel variants (c.67_83del17,...

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Source

Identifiers

PMID: 19406751
DOI: 10.1177/0883073808330764

Genes

ABCD1

Variants

Provenance

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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