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Article

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.

Human genetics - 1 Jan 1994

Dörk T, Fislage R, Neumann T, Wulf B, Tümmler B

Abstract excerpt

The alternatively spliced exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene codes for the initial part of the amino-terminal nucleotide-binding fold of CFTR. A unique feature of the acceptor splice site preceding this exon is a variable length polymorphism within the polypyrimidine tract influencing the extent of exon 9 skipping in CFTR mRNA. We investigated this repeat for its...

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Source

Identifiers

PMID: 7505767
DOI: 10.1007/BF00218916

Genes

CFTR

Provenance

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.

Related research

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Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.PMID 7505767Read ↗

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.Semantic proximity Read ↗

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.Semantic proximity Read ↗

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.Semantic proximity Read ↗

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.Semantic proximity Read ↗

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic ElementSemantic proximity Read ↗

Functional Analysis of cis-Acting Elements Regulating the Alternative Splicing of Human CFTR Exon 9Semantic proximity Read ↗

Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.Semantic proximity Read ↗

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.Semantic proximity Read ↗

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