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A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?
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A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?
A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy? J Genet. 2015 Jun; 94(2):309-12.
View in:
PubMed
subject areas
Aortic Valve Stenosis
Base Sequence
Codon, Nonsense
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Humans
Male
Membrane Proteins
Molecular Sequence Data
Nephrotic Syndrome
Pedigree
authors with profiles
Akl Fahed, M.D.