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Article

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.

Journal of the neurological sciences - 15 Feb 2011

Shukla Pallavi, Vasisht Suman, Srivastava Ranjana, Gupta Neerja, Ghosh Manju, Kumar Manoj, Sharma Raju, Gupta Arun K, Kaur Punit, Kamate Mahesh, Gulati Sheffali, Kalra Veena, Phadke Shubha, Singhi Pratibha, Dherai Alpa J, Kabra Madhulika

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations in arylsulfatase A (ARSA) gene. No work on molecular genetics of MLD has been reported from India and the mutational spectrum in Indian patients is not known. The present study was undertaken to identify mutations in arylsulfatase A gene in Indian MLD patients, to evaluate genotype-phenotype correlation, and to see the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21167507
DOI: 10.1016/j.jns.2010.11.007

Genes

ARSA

Variants

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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