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Article

Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.

Journal of human genetics - 1 Oct 2012

Niida Yo, Kuroda Mondo, Mitani Yusuke, Yokoi Ayano, Ozaki Mamoru

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme arylsulfatase A encoded by the ARSA gene located on 22q13.33. Typically, in autosomal recessive disease, a patient inherits two mutations from both parents who are heterozygou...

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Share to Abnormal Karyotype
Share to Cerebroside-Sulfatase
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enzyme Activation

Share to Leukocytes

Share to Leukodystrophy, Metachromatic

Share to Mutation, Missense

Share to Uniparental Disomy

Source

Identifiers

PMID: 22854541
DOI: 10.1038/jhg.2012.97

Genes

ARSA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22854541-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.PMID 22854541Read ↗

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