title: A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?
authors.affiliation: Department of Biochemistry and Molecular Genetics, American University of Beirut, P.O. Box 11-0236 Beirut, Lebanon. fadi.bitar@aub.edu.lb.
authors.forename: Lara
authors.initials: L
authors.lastname: Gharibeh
authors.forename: Inaam
authors.initials: I
authors.lastname: El-Rassy
authors.forename: Ayman
authors.initials: A
authors.lastname: Soubra
authors.forename: Raya
authors.initials: R
authors.lastname: Safa
authors.forename: Akl
authors.initials: A
authors.lastname: Fahed
authors.forename: Rachel
authors.initials: R
authors.lastname: Tanos
authors.forename: Mariam
authors.initials: M
authors.lastname: Arabi
authors.forename: Zakaria
authors.initials: Z
authors.lastname: Kambris
authors.forename: Fadi
authors.initials: F
authors.lastname: Bitar
authors.forename: Georges
authors.initials: G
authors.lastname: Nemer
mesh_terms: D001024:Aortic Valve Stenosis / Q000150:complications* / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009404:Nephrotic Syndrome / Q000150:complications* / Q000235:genetics*; D010375:Pedigree
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C113267:nephrin