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 family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Farez-Vidal M Esther, Gómez-Llorente M Amelia, Gómez-Llorente Carolina, Blanco Sonia, Casas-Maldonado Francisco, Campoy Cristina, Gómez-Capilla José Antonio

Abstract excerpt

Clinical manifestations of cystic fibrosis (CF) are variable. Genetic and environmental factors that determine whether an individual will develop associated complications are still under investigation. The present study reports the genetic analysis of a family with different clinical forms of CF and addresses the difficulty of CF diagnosis in an individual with mutant alleles G542X and R117H because of 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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Electrophoresis, Capillary

Share to Family

Share to Genotype

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 18078365
DOI: 10.2350/07-07-0311.1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H.PMID 18078365Read ↗

Compound heterozygosity for delta F508 and F508C: a cautionary note on the molecular diagnosis of cystic fibrosis.Semantic proximity Read ↗

Impact of genetic testing and family health history of cystic fibrosis in the early prenatal diagnosis and prevention of a new case of genetic disorder.Semantic proximity Read ↗

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.Semantic proximity Read ↗

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.Semantic proximity Read ↗

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical PresentationSemantic proximity Read ↗

Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.Semantic proximity Read ↗

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.Semantic proximity Read ↗

Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.Semantic proximity Read ↗

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.Semantic proximity Read ↗

Diagnosis of atypical CF: a case-report to reflect.Semantic proximity Read ↗

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTRSemantic proximity Read ↗

Phenotypic variability of R117H-CFTR expression within monozygotic twins.Semantic proximity Read ↗

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