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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

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