Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given...

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Detalles Bibliográficos
Autores principales: Saqib, Muhammad Arif Nadeem, Nikopoulos, Konstantinos, Ullah, Ehsan, Sher Khan, Falak, Iqbal, Jamila, Bibi, Rabia, Jarral, Afeefa, Sajid, Sundus, Nishiguchi, Koji M., Venturini, Giulia, Ansar, Muhammad, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421863/
https://www.ncbi.nlm.nih.gov/pubmed/25943428
http://dx.doi.org/10.1038/srep09965

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421863/
https://www.ncbi.nlm.nih.gov/pubmed/25943428
http://dx.doi.org/10.1038/srep09965

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