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Article

Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.

Human mutation - 1 Jan 1995

Schwarz M J, Malone G M, Haworth A, Cheadle J P, Meredith A L, Gardner A, Sawyer I H, Connarty M, Dennis N, Seller A

Abstract excerpt

We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 22 laboratories in the United Kingdom. A total of 9,807 CF chromosomes have been analysed, demonstrating 56 different mutations so far observed and accounting for 86% of CF genes in the native Caucasian population of the United Kingdom. delta F508 is the most common at 75.3% of CF mutations (range 56.5-83.7%), followed by G551D...

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Identifiers

PMID: 8680406
DOI: 10.1002/humu.1380060406

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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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