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Article

Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres.

Human reproduction (Oxford, England) - 1 Aug 1995

Sermon K, Lissens W, Nagy Z P, Van Steirteghem A, Liebaers I

Abstract excerpt

Tay-Sachs disease is a lysosomal storage disease, which in its most severe form leads inexorably to death during infancy. We have developed a method for preimplantation diagnosis, using polymerase chain reaction (PCR) technology, by which the two most frequent mutations occurring in this disease can be amplified simultaneously. We have tested this method on single blastomeres and have compared four lysis methods:...

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PMID: 8567876
DOI: 10.1093/oxfordjournals.humrep.a136270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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