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

Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

Human mutation - 1 Jan 1996

Nasr S Z, Strong T V, Mansoura M K, Dawson D C, Collins F S

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 Chlorides
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Electrophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Liver Failure

Share to Oocytes

Share to Polymorphism, Restriction Fragment Length

Share to Xenopus

Source

Identifiers

PMID: 8829633
DOI: 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.PMID 8829633Read ↗

Novel cystic fibrosis transmembrane conductance regulator variant in a cystic fibrosis patient.Semantic proximity Read ↗

Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.Semantic proximity Read ↗

A Chinese pediatric cystic fibrosis patient with the c.1624G>T, p. Gly542x/c.223C>T, p. Arg75x genotype.Semantic proximity Read ↗

The S549R (T-->G) cystic fibrosis gene mutation.Semantic proximity Read ↗

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

Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.Semantic proximity Read ↗

Ivacaftor in a G551D homozygote with cystic fibrosis.Semantic proximity Read ↗

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.Semantic proximity Read ↗

Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.Semantic proximity Read ↗

K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.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 ↗

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

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