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Article

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.

Human genetics - 1 Aug 1994

Hara Y, Ioannou P, Drousiotou A, Stylianidou G, Anastasiadou V, Suzuki K

Abstract excerpt

Sandhoff disease occurs in the Christian Maronite community in Cyprus, a community that established over a thousand years ago. Nowadays, this community comprises less than 1% of the whole population, and has been culturally and socially isolated. Cultured fibroblasts from a patient from this inbred group showed a beta-hexosaminidase beta subunit mRNA of apparently the normal size but of reduced quantity. A...

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PMID: 8045559
DOI: 10.1007/BF00202858

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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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