The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis – Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature

The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis – Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature

There are over 70.000 patients with cystic fibrosis (CF) in the world and numerous sequence variations in the CFTR gene have been reported but the clinical significance of all of them is still not known. There are currently 195 patients with the c.3140-26A>G (legacy name 3272-26A>G) variant in...

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Bibliographic Details
Main Authors: Ana Kotnik Pirš, Uroš Krivec, Katarina Trebušak Podkrajšek
Format: Article
Language:English
Published: Slovenian Chemical Society 2020-06-01
Series:Acta Chimica Slovenica
Subjects:
cystic fibrosis
cftr gene
c.3140-26a>g variant
homozygous
aberrant splicing
longitudinal patient data
Online Access:https://journals.matheo.si/index.php/ACSi/article/view/5677

Internet

https://journals.matheo.si/index.php/ACSi/article/view/5677

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