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

doi:10.1007/BF00202858

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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 inbr...

Topics

Base Sequence
Cyprus
DNA Mutational Analysis
Genotype
Humans
Infant
Male
Molecular Sequence Data
Polymerase Chain Reaction
Sandhoff Disease
beta-N-Acetylhexosaminidases

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