Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
Crossref DOI link: https://doi.org/10.1186/s12881-016-0271-9
Published Online: 2016-02-04
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Khan, Muzammil Ahmad
Mohan, Sumitra
Zubair, Muhammad
Windpassinger, Christian
Funding for this research was provided by:
Higher Education Commission, Pakistan (PK) (PM-IPFP/HRD/HEC/2011/346)