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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361598/
https://ncbi.nlm.nih.gov/pubmed/25775262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0119806
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