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Article

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

PloS one - 1 Jan 2011

Kumar Neeraj, Taneja Krishna Kant, Kalra Veena, Behari Madhuri, Aneja Satinder, Bansal Surendra Kumar

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encode the peroxisomal membrane protein. We conducted a genomic and protein expression study of susceptibility gene with its clinical and biochemical analysis. To the best of our knowledge this is the first preliminary comprehensive study in Indian population that...

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Source

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Identifiers

PMID: 21966424
DOI: 10.1371/journal.pone.0025094
PMCID: PMC3178599

Genes

ABCD1

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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