Carregant...

The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function

Peripherin 2 (Prph2) is a photoreceptor tetraspanin, and deletion of codon 153 (K153Δ) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in the same family. To study this variability, we generated a K153Δ-Prph2 knockin mouse. K153Δ-Prph2 cannot form the complexes required f...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Chakraborty, Dibyendu, Conley, Shannon M., Zulliger, Rahel, Naash, Muna I.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5179945/
https://ncbi.nlm.nih.gov/pubmed/27365499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw193
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!