F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients
(1) Background: many rare <i>cystic fibrosis</i><i>transmembrane conductance regulator</i> (CFTR) mutations remain poorly characterized with regard to functional consequences of the mutation. We present the clinical features of two pediatric cystic fibrosis (CF) subjects who...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-02-01
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Series: | Life |
Subjects: | |
Online Access: | https://www.mdpi.com/2075-1729/11/2/131 |