Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Life (Basel)
Autors principals: Bampi, Giovana B., Ramalho, Anabela S., Santos, Leonardo A., Wagner, Johannes, Dupont, Lieven, Cuppens, Harry, De Boeck, Kris, Ignatova, Zoya
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7824434/
https://ncbi.nlm.nih.gov/pubmed/33375403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/life11010014
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!