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Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa

Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by...

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Detalles Bibliográficos
Autores principales: Audere, Māreta, Rutka, Katrīna, Šepetiene, Svetlana, Lāce, Baiba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503555/
https://www.ncbi.nlm.nih.gov/pubmed/26229699
http://dx.doi.org/10.1155/2015/452068