A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

doi:10.1002/ana.410270503

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Article

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

Annals of neurology - 1 May 1990

Nakano T, Nanba E, Tanaka A, Ohno K, Suzuki Y, Suzuki K

Abstract excerpt

A new point mutation within exon 5 of beta-hexosaminidase alpha subunit gene (guanine509----adenine; arginine170----glutamine) has been identified as being responsible for the typical clinical and enzymological phenotype of infantile Tay-Sachs disease in a Japanese infant. Expression of the mutan...

Topics

Amino Acid Sequence
Base Sequence
Cells, Cultured
Fibroblasts
Humans
Infant
Japan
Male
Molecular Sequence Data
Mutation
Skin
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

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