Cargando…
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases
PURPOSE: The aim of the study was to elucidate the genetic background of retinitis pigmentosa (RP) in a Faroe Islands population, a genetic isolate in the North Atlantic Ocean. METHODS: Blood samples were collected from subjects diagnosed with RP and their families. DNA from affected individuals und...
Autores principales: | Ostergaard, Elsebet, Duno, Morten, Batbayli, Mustafa, Vilhelmsen, Kaj, Rosenberg, Thomas |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110495/ https://www.ncbi.nlm.nih.gov/pubmed/21677792 |
Ejemplares similares
-
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
por: Ostergaard, E, et al.
Publicado: (2010) -
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
por: Jespersgaard, Cathrine, et al.
Publicado: (2020) -
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
por: Lukovic, Dunja, et al.
Publicado: (2015) -
Retinal Laser Therapy Preserves Photoreceptors in a Rodent Model of MERTK-Related Retinitis Pigmentosa
por: Kang, Seungbum, et al.
Publicado: (2019) -
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa
por: Jinda, Worapoj, et al.
Publicado: (2016)