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Article

Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation.

Journal of inherited metabolic disease - 1 Jan 2004

Rozenberg R, Martins A M, Micheletti C, Mustacchi Z, Pereira L V

Abstract excerpt

Seven Brazilian Tay-Sachs disease cases were screened for the most frequent causative mutations. They all presented at least one copy of the IVS7+1g>c mutation. Three patients were homozygotes, three were compound heterozygotes, and in one case only the mother was tested and shown to carry the IVS7+1g>c mutation. In the second allele the compound heterozygotes presented: R178H (the DN allele), InsTATC1278 and an...

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Identifiers

PMID: 15065574
DOI: 10.1023/b:boli.0000016680.42018.a1

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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