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 are heterozygous for F10...

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Huvudupphov:	Xiaoying Zhang, Jaspal S. Hothi, Yanhui H. Zhang, Aixia Ren, Michael J. Rock, Saumini Srinivasan, Dennis C. Stokes, Anjaparavanda P. Naren, Weiqiang Zhang
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	MDPI AG 2021-02-01
Serie:	Life
Ämnen:	protein channel cystic fibrosis (CF) CFTR F1099L-CFTR CFTR modulators VX-809 (lumacaftor)
Länkar:	https://www.mdpi.com/2075-1729/11/2/131
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