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Article

A null allele frequent in non-Jewish Tay-Sachs patients.

Human genetics - 1 Feb 1993

Akli S, Chelly J, Kahn A, Poenaru L

Abstract excerpt

The molecular basis of null alleles was investigated by cDNA polymerase chain reaction (PCR) in seven Tay-Sachs patients. Although mRNAs were undetectable by Northern blot, cDNA-PCR amplification allowed us to get a sufficient amount of cDNA to characterize abnormal transcripts. In two French patients (one homozygote and one compound heterozygote with a 4-bp insertion in exon 11 of the second allele) suffering an...

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PMID: 8444467
DOI: 10.1007/BF00202478

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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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