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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 mutant enzyme protein in the COS I cell system indicated that it is catalytically inactive and also is unstable. The patient...

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PMID: 2141777
DOI: 10.1002/ana.410270503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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