Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry;Orphanet Journal of Rare Diseases;2021-10-02
2. Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis;Case Reports in Genetics;2015
3. Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?;European Journal of Pediatrics;2012-01-25
4. Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom;Clinical Genetics;2007-02-19
5. Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form ofCFTR dysfunction;American Journal of Medical Genetics Part A;2005
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