Concepedia
Indian Pediatrics · 2013 · 20 citations · 20 references
MedicineGeneticsPediatricsHuman GeneticsMedical GeneticsPediatric GeneticsCongenital DisordersCystic FibrosisGenetic DisordersGenetic SyndromesMutation AnalysisMutation ScreeningCftr Gene MutationsCystic Fibrosis GeneticsCystic Fibrosis ScreeningMutationMutation Curation
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A TEST FOR CONCENTRATION OF ELECTROLYTES IN SWEAT IN CYSTIC FIBROSIS OF THE PANCREAS UTILIZING PILOCARPINE BY IONTOPHORESIS
Lewis E. Gibson, Robert E. Cooke · PEDIATRICS · 1959 · 1.4K citations
Medicine, Pharmacology, Clinical Biochemistry +13
A SIMPLE AND ACCURATE METHOD FOR THE DETERMINATION OF CHLORIDE IN BIOLOGICAL FLUIDS
Otto Schales, Selma S. Schales · Journal of Biological Chemistry · 1941 · 1.1K citations · Full text
Natural Sciences, Chemistry, Analytical Chemistry +7
A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations
W. Edward Highsmith, Lauranell H. Burch, Zhaoqing Zhou et al. · New England Journal of Medicine · 1994 · 437 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Comparison of the clinical manifestations of cystic fibrosis in black and white patients
Ada Hamosh, Stacey C. FitzSimmons, Milan Maçek et al. · The Journal of Pediatrics · 1998 · 266 citations · Full text
Medicine, Pathobiology, Pathology +4
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
Dvorah Abeliovich, Iris Lavon, Israela Lerer et al. · PubMed · 1992 · 150 citations
Life Sciences, Genetics, Molecular Genetics +13