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Article

Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.

Genomics - 1 Mar 1993

Dörk T, Wulbrand U, Tümmler B

Abstract excerpt

Single cases of the four novel splice site mutations 1525-1 G-->A (intron 9), 3601-2 A-->G (intron 18), 3850-3 T-->G (intron 19), and 4374 + 1 G-->T (intron 23) were detected in the CFTR gene of cystic fibrosis patients of Indo-Iranian, Turkish, Polish, and German descent. The nucleotide substitutions at the +1, -1, and -2 positions all destroy splice sites and lead to severe disease alleles associated with...

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Source

Identifiers

PMID: 7682196
DOI: 10.1006/geno.1993.1127

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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