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Article

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.

Human mutation - 1 Dec 2000

Seia M, Cantù-Rajnoldi A, Ambrosioni A, Fiori S, Bassotti A, Pizzamiglio G, Giunta A, Padoan R

Abstract excerpt

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Share to Amino Acid Substitution
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Exocrine Pancreatic Insufficiency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11102992
DOI: 10.1002/1098-1004(200012)16:6<532::AID-HUMU20>3.0.CO;2-E

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.PMID 11102992Read ↗

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.Semantic proximity Read ↗

A novel missense mutation, S1159F, in exon 19 of the CFTR gene.Semantic proximity Read ↗

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.Semantic proximity Read ↗

A novel mutation (G1249R) in exon 20 of the CFTR gene.Semantic proximity Read ↗

Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.Semantic proximity Read ↗

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.Semantic proximity Read ↗

Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.Semantic proximity Read ↗

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.Semantic proximity Read ↗

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.Semantic proximity Read ↗

Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.Semantic proximity Read ↗

Identification of two novel mutations in the cystic fibrosis gene: 1898+3A-->C and 2711delT.Semantic proximity Read ↗

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