At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.

doi:10.1006/mgme.1998.2742

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Article

At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.

Molecular genetics and metabolism - 1 Nov 1998

Ozkara H A, Navon R

Abstract excerpt

Twenty-five Turkish infants with Tay-Sachs disease (TSD) have been diagnosed in the past 8 years. All are from consanguineous, nonrelated families. The present study deals with the molecular basis of six Turkish TSD patients from five unrelated families in which the parents were first cousins. Th...

Topics

Consanguinity
Hexosaminidase A
Homozygote
Humans
Infant
Mutation
Polymorphism, Single-Stranded Conformational
Tay-Sachs Disease
Turkey
beta-N-Acetylhexosaminidases

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