Show simple item record

dc.contributor.authorKhan, M
dc.contributor.authorMohan, Sumitra
dc.contributor.authorZubair, M
dc.contributor.authorWindpassinger, C
dc.date.accessioned2016-03-03T14:45:15Zen
dc.date.available2016-03-03T14:45:15Zen
dc.date.issued2016en
dc.identifier.citationHomozygosity 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 Geneten
dc.identifier.issn1471-2350en
dc.identifier.pmid26846096en
dc.identifier.doi10.1186/s12881-016-0271-9en
dc.identifier.urihttp://hdl.handle.net/10541/600555en
dc.description.abstractBardet 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.isoenen
dc.rightsArchived with thanks to BMC medical geneticsen
dc.titleHomozygosity 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.typeArticleen
dc.contributor.departmentGomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa, Khyber-Pakhtoonkhwa, 29050, Pakistan.en
dc.identifier.journalBMC Medical Geneticsen
html.description.abstractBardet 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.


This item appears in the following Collection(s)

Show simple item record