Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF

Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF

Abstract People living with cystic fibrosis (pwCF) homozygous for F508del present more severe phenotypes. PwCF with compound heterozygous genotypes F508del /A455E and F508del /L206W may have milder cystic fibrosis (CF) phenotypes. We compared F508del homozygotes and common compound heterozygotes (F5...

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Bibliographic Details
Main Authors: Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, Valérie Boudreau, François Tremblay, Annick Lavoie, Maite Carricart, Ashish Marwaha, Rémi Rabasa-Lhoret, Kathryn J. Potter
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2024-03-01
Series:Genetics and Molecular Biology
Subjects:
CFTR variants
Cystic Fibrosis
Oral Glucose Tolerance Test
L206W
A455E
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100104&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100104&tlng=en

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