c.3623G > A mutation encodes a CFTR protein with impaired channel function

BACKGROUND: The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation. METHODS: The medical r...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaoying, Hothi, Jaspal S., Zhang, Yanhui H., Srinivasan, Saumini, Stokes, Dennis C., Zhang, Weiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724100/
https://www.ncbi.nlm.nih.gov/pubmed/26800689
http://dx.doi.org/10.1186/s12931-016-0326-7

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