ArticleHuman genetics1994
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
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 15 papers.
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Who cites it
15 citing papers in PubMed.
- Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.Journal of clinical medicine · 2025Article
- Q1291H-CFTR molecular dynamics simulations andFrontiers in molecular biosciences · 2023Article
- Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic AnalysisIranian biomedical journal · 2022Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.Orphanet journal of rare diseases · 2022Article
- The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.Balkan medical journal · 2021Article
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.BMC medical genetics · 2019Article
- Mutating the Conserved Q-loop Glutamine 1291 Selectively Disrupts Adenylate Kinase-dependent Channel Gating of the ATP-binding Cassette (ABC) Adenylate Kinase Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Reduces Channel Function in Primary Human Airway Epithelia.The Journal of biological chemistry · 2015Article
- CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.PloS one · 2014Article
- Proposal of a CT scoring system of the paranasal sinuses in diagnosing cystic fibrosis.European radiology · 2003Article
- Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.American journal of human genetics · 1999Article
- Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.Journal of medical genetics · 1998Article
- Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.Journal of medical genetics · 1997Article
- Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.Journal of medical genetics · 1996Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in 350 German CF patients. A screening approach based on single-strand conformation analysis and direct sequencing of genomic polymerase chain reaction products has allowed us to detect the molecular defects on 95.4% of the CF chromosomes within the coding region and splice sites of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The spectrum of sequence changes comprises 54 different mutations, including 17 missense mutations, 14 nonsense mutations, 11 frameshift mutations, 10 splice site variants and two amino acid deletions. Eleven of these mutations have not previously been described. Our results reflect the marked mutational heterogeneity of CF in a large sample of patients from a non-isolated population.
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