Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
dc.contributor.author | Khan, M | |
dc.contributor.author | Mohan, Sumitra | |
dc.contributor.author | Zubair, M | |
dc.contributor.author | Windpassinger, C | |
dc.date.accessioned | 2016-03-03T14:45:15Z | en |
dc.date.available | 2016-03-03T14:45:15Z | en |
dc.date.issued | 2016 | en |
dc.identifier.citation | Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. 2016, 17 (1):10 BMC Med Genet | en |
dc.identifier.issn | 1471-2350 | en |
dc.identifier.pmid | 26846096 | en |
dc.identifier.doi | 10.1186/s12881-016-0271-9 | en |
dc.identifier.uri | http://hdl.handle.net/10541/600555 | en |
dc.description.abstract | Bardet Biedl Syndrome (BBS) is a rare condition of multi-organ dysfunction with characteristic clinical features of retinal degeneration, truncal obesity, postaxial polydactyly, genital anomaly, intellectual disability and renal dysfunction. It is a hetero-genetic disorder and nineteen BBS genes have been discovered so far. | |
dc.language.iso | en | en |
dc.rights | Archived with thanks to BMC medical genetics | en |
dc.title | Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. | en |
dc.type | Article | en |
dc.contributor.department | Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa, Khyber-Pakhtoonkhwa, 29050, Pakistan. | en |
dc.identifier.journal | BMC Medical Genetics | en |
html.description.abstract | Bardet Biedl Syndrome (BBS) is a rare condition of multi-organ dysfunction with characteristic clinical features of retinal degeneration, truncal obesity, postaxial polydactyly, genital anomaly, intellectual disability and renal dysfunction. It is a hetero-genetic disorder and nineteen BBS genes have been discovered so far. |