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Article

High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes.

Human molecular genetics - 1 Mar 1997

Shuber A P, Michalowsky L A, Nass G S, Skoletsky J, Hire L M, Kotsopoulos S K, Phipps M F, Barberio D M, Klinger K W

Abstract excerpt

As more mutations are identified in genes of known sequence, there is a crucial need in the areas of medical genetics and genome analysis for rapid, accurate and cost-effective methods of mutation detection. We have developed a multiplex allele-specific diagnostic assay (MASDA) for analysis of large numbers of samples (> 500) simultaneously for a large number of known mutations (> 100) in a single assay. MASDA...

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Identifiers

PMID: 9147636
DOI: 10.1093/hmg/6.3.337

Genes

BRCA1

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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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