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

A comprehensive CFTR mutation analysis of German cystic fibrosis patients.

Human molecular genetics - 1 Jun 1993

Reiss J, Ellermeyer U, Rininsland F, Ballhausen P, Lenz U, Wagner S, Schlösser M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Germany

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

Share to Membrane Proteins

Share to Point Mutation

Source

Identifiers

PMID: 7689013
DOI: 10.1093/hmg/2.6.809

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 comprehensive CFTR mutation analysis of German cystic fibrosis patients.PMID 7689013Read ↗

Analysis of five CFTR mutations in Hungarian cystic fibrosis patients.Semantic proximity Read ↗

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

Towards personalized medicine for cystic fibrosis patients with rare mutations.Semantic proximity Read ↗

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening.Semantic proximity Read ↗

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.Semantic proximity Read ↗

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.Semantic proximity Read ↗

Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Semantic proximity Read ↗

Role of CFTR variants explored in developing cystic fibrosis symptoms: Latest research highlights disease manifestations in diverse ethnicities of children.Semantic proximity Read ↗

A new era of personalized medicine for cystic fibrosis - at last!Semantic proximity Read ↗

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.Semantic proximity Read ↗

A correction of the estimates of the least common cystic fibrosis (CF) mutations published by "The Cystic Fibrosis Genetic Analysis Consortium" in 1994.Semantic proximity Read ↗

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