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Article

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

Molecular genetics and metabolism - 1 Jan 2000

Regis Stefano, Lualdi Susanna, Biffi Alessandra, Sessa Maria, Corsolini Fabio, Parenti Giancarlo, Filocamo Mirella

Abstract excerpt

A metachromatic leukodystrophy (MLD) patient was found to carry two additional arylsulfatase A (ARSA) alleles besides the two inherited. The additional alleles arose from an event of mitotic intragenic recombination between the inherited alleles, thus leading to a case of somatic mosaicism. As suggested by in vitro expression, the recombination was ineffective in generating a significantly advantaged ARSA allele...

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Source

Identifiers

PMID: 16782379
DOI: 10.1016/j.ymgme.2006.03.016

Genes

ARSA

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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