ArticleHuman genetics1994
394delTT: a Nordic cystic fibrosis mutation.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 34 citations in OpenAlex.
- Phenotypic Evaluation of Rare Cystic Fibrosis Transmembrane Conductance Regulator Mutation Combinations in People with Cystic Fibrosis in Queensland, Australia.Journal of clinical medicine · 2024Article
- Pathogenic Variants and Genotypes of theInternational journal of molecular sciences · 2023Article
- Assessing the Disease-Liability of Mutations in CFTR.Cold Spring Harbor perspectives in medicine · 2012Article
- Proposal of a CT scoring system of the paranasal sinuses in diagnosing cystic fibrosis.European radiology · 2003Article
- Cystic fibrosis in a low-incidence population: two major mutations in Finland.Human genetics · 1994Article
Corrections and comments
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Authors and funding
8 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It also occurs with a high frequency in Finland, but has not been found in larger surveys of mutations in the CFTR gene. Thus, 394delTT seems to be a specific Nordic CF mutation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.