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

Comprehensive mutation screening in a cystic fibrosis center.

Pediatrics - 1 Feb 2001

Wine J J, Kuo E, Hurlock G, Moss R B

Abstract excerpt

OBJECTIVES AND BACKGROUND: The identities of a cystic fibrosis (CF) patient's CFTR mutations can influence therapeutic strategies, but because >800 CFTR mutations exist, cost-effective, comprehensive screening requires a multistage approach. Single-strand conformation polymorphism and heteroduplex analysis (SSCP/HA) can be an important part of mutation detection, but must be calibrated within each laboratory. The...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to DNA Mutational Analysis

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

Share to Genetic Testing

Share to Heteroduplex Analysis

Share to Polymorphism, Single-Stranded Conformational

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 11158459
DOI: 10.1542/peds.107.2.280

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

Comprehensive mutation screening in a cystic fibrosis center.PMID 11158459Read ↗

Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.Semantic proximity Read ↗

Cystic fibrosis carrier testing in an ethnically diverse US population.Semantic proximity Read ↗

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.Semantic proximity Read ↗

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

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.Semantic proximity Read ↗

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.Semantic proximity Read ↗

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.Semantic proximity Read ↗

Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists.Semantic proximity Read ↗

Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.Semantic proximity Read ↗

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.Semantic proximity Read ↗

The role of improved molecular genetic testing in the diagnosis of cystic fibrosis - a case series.Semantic proximity Read ↗

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.Semantic proximity Read ↗

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