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Article

Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.

PCR methods and applications - 1 Nov 1992

Raskin S, Phillips J A, Kaplan G, McClure M, Vnencak-Jones C

Abstract excerpt

In the United States the most common cystic fibrosis (CF) alleles known are F508, G551D, G542X, R553X, and N1303K. These mutations comprise approximately 85% of U.S. CF alleles, and their detection along with analysis of XV-2C and KM-19 restriction fragment length polymorphisms (RFLPs) can enable the determination of CF status. To facilitate studies for determining CF carrier status, we developed methods to...

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PMID: 1362128
DOI: 10.1101/gr.2.2.154

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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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