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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2013
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3616519/
https://ncbi.nlm.nih.gov/pubmed/23559858
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky