Article
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
The Journal of pediatrics - 1 Feb 2017
Sosnay Patrick R, Salinas Danieli B, White Terry B, Ren Clement L, Farrell Philip M, Raraigh Karen S, Girodon Emmanuelle, Castellani Carlo
Abstract excerpt
OBJECTIVE: As a Mendelian disease, genetics plays an integral role in the diagnosis of cystic fibrosis (CF). The identification of 2 disease-causing mutations in the CF transmembrane conductance regulator (CFTR) in an individual with a phenotype provides evidence that the disease is CF. However, not all variations in CFTR always result in CF. Therefore, for CFTR genotype to provide the same level of evidence of...
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