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Article

Differences in origin of the 1448C mutation in patients with Gaucher disease.

Acta paediatrica Japonica : Overseas edition - 1 Aug 1997

Iwasawa K, Ida H, Eto Y

Abstract excerpt

Gaucher disease (GD) can be caused by any of over 50 mutations of the gene of glucocerebrosidase (D-glucosyl acylsphingosine glucohydrolase; EC 3.2.1.45). The 1448T to C mutation is found among all ethnic groups. In Ashkenazi Jews, the patients who are homozygous for the 1448C mutation are associated with the neuropathic form of the disease, but this is not the case in Japanese patients. This present study was...

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Source

Identifiers

PMID: 9316290
DOI: 10.1111/j.1442-200x.1997.tb03616.x

Genes

PKLR

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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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