The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation

Synonymous single nucleotide polymorphisms (sSNPs), which change a nucleotide, but not the encoded amino acid, are perceived as neutral to protein function and thus, classified as benign. We report a patient who was diagnosed with cystic fibrosis (CF) at an advanced age and presented very mild CF sy...

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Detalles Bibliográficos
Autores principales: Bampi, Giovana B., Ramalho, Anabela S., Santos, Leonardo A., Wagner, Johannes, Dupont, Lieven, Cuppens, Harry, De Boeck, Kris, Ignatova, Zoya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824434/
https://www.ncbi.nlm.nih.gov/pubmed/33375403
http://dx.doi.org/10.3390/life11010014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824434/
https://www.ncbi.nlm.nih.gov/pubmed/33375403
http://dx.doi.org/10.3390/life11010014

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