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Peter R. Durie

Researcher at University of Toronto

Publications -  257
Citations -  18530

Peter R. Durie is an academic researcher from University of Toronto. The author has contributed to research in topics: Cystic fibrosis & Pancreatic disease. The author has an hindex of 70, co-authored 257 publications receiving 17317 citations. Previous affiliations of Peter R. Durie include University Health Network & Ben-Gurion University of the Negev.

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The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

TL;DR: The variable clinical course in patients with cystic fibrosis can be attributed at least in part to specific genotypes at the locus of the cystic Fibrosis gene.
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Mutations in SBDS are associated with Shwachman–Diamond syndrome

TL;DR: Identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 is reported, suggesting that SDS may be caused by a deficiency in an aspect of RNA metabolism essential for development of the exocrine pancreas, hematopoiesis and chrondrogenesis.
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Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation

TL;DR: In this study, VX-809 had a similar adverse event profile to placebo for 28 days in F508del-CFTR homozygous patients, and demonstrated biological activity with positive impact on CFTR function in the sweat gland.