The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.

doi:10.1016/0009-9120(90)90153-l

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Article

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.

Clinical biochemistry - 1 Oct 1990

Mahuran D J, Triggs-Raine B L, Feigenbaum A J, Gravel R A

Abstract excerpt

Tay-Sachs disease is the prototype of lysosomal storage disease. While it was first described over a century ago, the defective enzyme was not identified until 1969, making possible the development of enzyme-based diagnostic and carrier screening techniques. This led to the establishment of the s...

Topics

G(M2) Ganglioside
Genetic Carrier Screening
Humans
Mass Screening
Mutation
Phenotype
Prenatal Diagnosis
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

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