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Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa

PURPOSE: To identify genes underlying autosomal recessive retinitis pigmentosa (ARRP) by homozygosity mapping. METHODS: Families with ARRP were recruited after complete ophthalmic evaluation of all members and diagnosis of RP by predefined criteria. Genomic DNA from affected members of 26 families w...

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Detalles Bibliográficos
Autores principales: Kannabiran, Chitra, Singh, Hardeep, Sahini, Nishika, Jalali, Subhadra, Mohan, Gayathri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351411/
https://www.ncbi.nlm.nih.gov/pubmed/22605927