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Article

Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.

Brain & development - 1 Apr 2003

Ozkara Hatice Asuman, Sandhoff Konrad

Abstract excerpt

Two homoallelic mutations have recently been identified in the alpha-subunit of hexosaminidase A (EC 3.2.1.52) causing the infantile form of Tay-Sachs disease in Turkish patients. Both of these mutations, a 12 bp deletion (1096-1107 or 1098-1108 or 1099-1109) in exon 10 and a point mutation (G1362 to A, Gly454 to Asp) in exon 12, are located in the catalytic domain of the hexosaminidase alpha-chain. In order to...

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Identifiers

PMID: 12689698
DOI: 10.1016/s0387-7604(02)00213-9

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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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Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.PMID 12689698Read ↗

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