Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene
Muzammal, Muhammad, Zubair, Muhammad, Bierbaumer, Sophie, Blatterer, Jasmin, Graf, Ricarda, Gul, Aisha, Abbas, Safdar, Badar, Muhammad, Abbasi, Ansar Ahmad, Khan, Muzammil Ahmad, Windpassinger, ChristLanguage:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.834
Date:
July, 2019
File:
PDF, 537 KB
english, 2019