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Article

Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.

Blood cells, molecules & diseases - 1 Dec 1997

Amaral O, Marcão A, Pinto E, Zimran A, Miranda M C

Abstract excerpt

A new polymorphism, in intron 7 of glucocerebrosidase gene, has been identified in Gaucher Disease patients. It seems to appear only in Pv1.1- alleles bearing the N370S mutation. This new sub-haplotype was only identified in Portuguese patients, of origins spanning all of the Portuguese continental territory. This finding indicates that, in the Portuguese, mutation N370S has existed in the context of two slightly...

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Identifiers

PMID: 9446756
DOI: 10.1006/bcmd.1997.0159

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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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