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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, Christian.
Affiliation
  • Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa, Khyber-Pakhtoonkhwa, 29050, Pakistan. muzammil.gandapur@hotmail.com.
  • Mohan S; Interim Translational Research Institute, Genomic Core Facility, Academic Health System, Hamad Medical Corporation, Doha, 3050, Qatar. muzammil.gandapur@hotmail.com.
  • Zubair M; Institute of Human Genetics, Medical University of Graz, Graz, 8010, Austria. Sumitra.Mohan@cruk.manchester.ac.uk.
  • Windpassinger C; Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa, Khyber-Pakhtoonkhwa, 29050, Pakistan. muhammad.zubair0913@gmail.com.
BMC Med Genet ; 17: 10, 2016 Feb 04.
Article in En | MEDLINE | ID: mdl-26846096
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Full text: 1 Database: MEDLINE Main subject: Chromosome Mapping / Bardet-Biedl Syndrome / Neoplasm Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Pakistan
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Full text: 1 Database: MEDLINE Main subject: Chromosome Mapping / Bardet-Biedl Syndrome / Neoplasm Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Pakistan