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

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dc.contributor.authorGharibeh, Lara
dc.contributor.authorEl-Rassy, Inaam
dc.contributor.authorSoubra, Ayman
dc.contributor.authorSafa, Raya
dc.contributor.authorFahed, A. K.L.
dc.contributor.authorTanos, Rachel
dc.contributor.authorArabi, Mariam Toufic
dc.contributor.authorKambris, Zakaria
dc.contributor.authorBitar, Fadi Fouad
dc.contributor.authorNemer, Georges M.
dc.contributor.departmentBiochemistry and Molecular Genetics
dc.contributor.departmentPediatrics and Adolescent Medicine
dc.contributor.departmentDepartment of Biology
dc.contributor.facultyFaculty of Medicine (FM)
dc.contributor.facultyFaculty of Arts and Sciences (FAS)
dc.contributor.institutionAmerican University of Beirut
dc.date.accessioned2025-01-24T11:37:47Z
dc.date.available2025-01-24T11:37:47Z
dc.date.issued2015
dc.identifier.doihttps://doi.org/10.1007/s12041-015-0514-0
dc.identifier.eid2-s2.0-84938974208
dc.identifier.pmid26174680
dc.identifier.urihttp://hdl.handle.net/10938/28871
dc.language.isoen
dc.publisherSpringer India
dc.relation.ispartofJournal of Genetics
dc.sourceScopus
dc.subjectAortic
dc.subjectCongenital
dc.subjectNphs1
dc.subjectStenosis
dc.subjectAortic valve stenosis
dc.subjectBase sequence
dc.subjectCodon, nonsense
dc.subjectDna mutational analysis
dc.subjectFemale
dc.subjectGenetic predisposition to disease
dc.subjectHumans
dc.subjectMale
dc.subjectMembrane proteins
dc.subjectMolecular sequence data
dc.subjectNephrotic syndrome
dc.subjectPedigree
dc.subjectMembrane protein
dc.subjectNephrin
dc.subjectStop codon
dc.subjectAorta valve stenosis
dc.subjectComplication
dc.subjectGenetic predisposition
dc.subjectGenetics
dc.subjectHuman
dc.subjectMolecular genetics
dc.subjectNucleotide sequence
dc.titleA novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?
dc.typeArticle

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