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Article

Methods for analysis of multiple cystic fibrosis mutations.

Human genetics - 1 Sept 1991

Ng I S, Pace R, Richard M V, Kobayashi K, Kerem B, Tsui L C, Beaudet A L

Abstract excerpt

A large number of mutations causing cystic fibrosis (CF) have been reported. In an attempt to improve methods for genetic diagnosis and for heterozygote screening, we evaluated methods for efficient analysis of the delta F508, G542X, G551D, R553X, and N1303K mutations. We found that multiple mutations can be analyzed simultaneously using hybridization with allele-specific oligonucleotides. Alternatively all of...

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PMID: 1916764
DOI: 10.1007/BF00209023

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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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