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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Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3616519/
https://ncbi.nlm.nih.gov/pubmed/23559858
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