Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

BACKGROUND: Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective ma...

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Detalles Bibliográficos
Autores principales: Maria, Maleeha, Ajmal, Muhammad, Azam, Maleeha, Waheed, Nadia Khalida, Siddiqui, Sorath Noorani, Mustafa, Bilal, Ayub, Humaira, Ali, Liaqat, Ahmad, Shakeel, Micheal, Shazia, Hussain, Alamdar, Shah, Syed Tahir Abbas, Ali, Syeda Hafiza Benish, Ahmed, Waqas, Khan, Yar Muhammad, den Hollander, Anneke I., Haer-Wigman, Lonneke, Collin, Rob W. J., Khan, Muhammad Imran, Qamar, Raheel, Cremers, Frans P. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361598/
https://www.ncbi.nlm.nih.gov/pubmed/25775262
http://dx.doi.org/10.1371/journal.pone.0119806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361598/
https://www.ncbi.nlm.nih.gov/pubmed/25775262
http://dx.doi.org/10.1371/journal.pone.0119806

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