Molecular studies of phenotype variation in canine RPGR-XLPRA1

PURPOSE: Canine X-linked progressive retinal atrophy 1 (XLPRA1) caused by a mutation in retinitis pigmentosa (RP) GTPase regulator (RPGR) exon ORF15 showed significant variability in disease onset in a colony of dogs that all inherited the same mutant X chromosome. Defective protein trafficking has...

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Detalles Bibliográficos
Autores principales: Appelbaum, Tatyana, Becker, Doreen, Santana, Evelyn, Aguirre, Gustavo D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830396/
https://www.ncbi.nlm.nih.gov/pubmed/27122963

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830396/
https://www.ncbi.nlm.nih.gov/pubmed/27122963

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