Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Human genetics - 1 Feb 1992

Dörk T, Neumann T, Wulbrand U, Wulf B, Kälin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G

Abstract excerpt

In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence
Share to DNA

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

Share to Genetic Markers

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1371263
DOI: 10.1007/BF00215676

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

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.PMID 1371263Read ↗

Haplotype distribution of and linkage disequilibrium between four polymorphic markers near the CFTR locus in Brazilian cystic fibrosis patients.Semantic proximity Read ↗

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.Semantic proximity Read ↗

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.Semantic proximity Read ↗

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).Semantic proximity Read ↗

[Analysis of intragenic polymorphic markers of the CFTR gene in cystic fibrosis patients and health donors from Bashkorostan].Semantic proximity Read ↗

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.Semantic proximity Read ↗

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype.Semantic proximity Read ↗

Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.Semantic proximity Read ↗

Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium.Semantic proximity Read ↗

XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients.Semantic proximity Read ↗

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.Semantic proximity Read ↗

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.