A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

Autor: GHARIBEH, LARA¹, EL-RASSY, INAAM¹, SOUBRA, AYMAN¹, SAFA, RAYA¹, FAHED, AKL¹, TANOS, RACHEL¹, ARABI, MARIAM², KAMBRIS, ZAKARIA³, BITAR, FADI fadi.bitar@aub.edu.lb, NEMER, GEORGES¹ georges.nemer@aub.edu.lb

Publikováno v: Journal of Genetics. Jun2015, Vol. 94 Issue 2, p309-312. 4p.

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GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.

Autor: Kassab K; Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon., Hariri H; Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon., Gharibeh L; Department of Biochemistry University of Ottawa Ottawa Ontario Canada., Fahed AC; Department of Genetics Harvard Medical School and Department of Internal Medicine Massachusetts General Hospital Boston Massachusetts., Zein M; Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon., El-Rassy I; Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon., Nemer M; Department of Biochemistry University of Ottawa Ottawa Ontario Canada., El-Rassi I; Department of Pediatrics and Adolescent Medicine American University of Beirut Beirut Lebanon., Bitar F; Department of Biochemistry and Molecular GeneticsAmerican University of BeirutBeirutLebanon; Department of SurgeryAmerican University of BeirutBeirutLebanon., Nemer G; Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2015 Dec 20; Vol. 4 (2), pp. 160-71. Date of Electronic Publication: 2015 Dec 20 (Print Publication: 2016).