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

Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.

The New England journal of medicine - 5 Dec 1991

Strong T V, Smit L S, Turpin S V, Cole J L, Hon C T, Markiewicz D, Petty T L, Craig M W, Rosenow E C, Tsui L C

Abstract excerpt

No abstract is available from the source.

Topics

Base Sequence
Cystic Fibrosis
DNA
Electrolytes
Exons
Female
Humans
Middle Aged
Molecular Sequence Data
Mutation
Sweat

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1944451
DOI: 10.1056/NEJM199112053252307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.PMID 1944451Read ↗

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

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.Semantic proximity Read ↗

Cystic fibrosis, Young's syndrome, and normal sweat chloride.Semantic proximity Read ↗

Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant.Semantic proximity Read ↗

A mild variant of cystic fibrosis.Semantic proximity Read ↗

Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype.Semantic proximity Read ↗

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.Semantic proximity Read ↗

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

L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis.Semantic proximity Read ↗

Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.Semantic proximity Read ↗

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.Semantic proximity Read ↗

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.Semantic proximity Read ↗

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