Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
Khan, Muzammil Ahmad, Mohan, Sumitra, Zubair, Muhammad, Windpassinger, ChristianVolume:
17
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-016-0271-9
Date:
December, 2016
File:
PDF, 623 KB
english, 2016