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Article

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

American journal of human genetics - 1 Oct 1993

Boustany R M, Qian W H, Suzuki K

Abstract excerpt

We describe four new mutations in the beta-galactosidase gene. These are the first mutations causing infantile and juvenile GM1-gangliosidosis to be described in American patients. Cell lines from two patients with juvenile and from six patients with infantile GM1-gangliosidosis were analyzed. Northern blot analysis showed the acid beta-galactosidase message to be of normal size and quantity in two juvenile and...

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Identifiers

PMID: 8213816
PMCID: PMC1682392

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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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