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Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

PURPOSE: To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. METHODS: Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal pr...

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Detalles Bibliográficos
Autores principales:	Ajmal, Muhammad, Khan, Muhammad Imran, Neveling, Kornelia, Tayyab, Ali, Jaffar, Sulman, Sadeque, Ahmed, Ayub, Humaira, Abbasi, Nasir Mahmood, Riaz, Moeen, Micheal, Shazia, Gilissen, Christian, Ali, Syeda Hafiza Benish, Azam, Maleeha, Collin, Rob W. J., Cremers, Frans P. M., Qamar, Raheel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616519/ https://www.ncbi.nlm.nih.gov/pubmed/23559858

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