Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

Biallelic pathogenic variants in CFTR manifest as cystic fibrosis (CF) or other CFTR‐related disorders (CFTR‐RDs). The 5T allele, causing alternative splicing and reduced protein activity, is modulated by the adjacent TG repeat element, though previous data have been limited to small, selective coho...

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Detalles Bibliográficos
Autores principales: Nykamp, Keith, Truty, Rebecca, Riethmaier, Darlene, Wilkinson, Julia, Bristow, Sara L., Aguilar, Sienna, Neitzel, Dana, Faulkner, Nicole, Aradhya, Swaroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292755/
https://www.ncbi.nlm.nih.gov/pubmed/34196078
http://dx.doi.org/10.1002/humu.24250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292755/
https://www.ncbi.nlm.nih.gov/pubmed/34196078
http://dx.doi.org/10.1002/humu.24250

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