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Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) is the most common form of inherited blindness, caused by progressive degeneration of photoreceptor cells in the retina, and affects approximately 1 in 3,000 people. Over the past decade, significant progress has been made in gene therapy for RP and related disease...

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Detalles Bibliográficos
Autores principales: Paterson, Rachel L., De Roach, John N., McLaren, Terri L., Hewitt, Alex W., Hoffmann, Ling, Lamey, Tina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413434/
https://www.ncbi.nlm.nih.gov/pubmed/22876132