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Article

A new diagnostic test for Gaucher disease suitable for population screening.

PCR methods and applications - 1 Aug 1994

Sakallah S A, Sansieri C, Kopp D W, Cooper D L, Barranger J A

Abstract excerpt

A new test for the diagnosis of Gaucher disease is described. The test is designed to screen large numbers of clinical specimens from high-risk populations. It consists of duplex PCR amplification of genomic DNA followed by hybridization to alkaline phosphatase-conjugated allele-specific oligonuc...

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PMID: 9018309
DOI: 10.1101/gr.4.1.1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9018309-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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