F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients
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DOI: 10.3390/life11020131
Abstract: (1) Background: many rare cystic fibrosis transmembrane conductance regulator (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… read more here.
Keywords: two pediatric; impaired channel; f1099l cftr; mutation ... See more keywords