A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?
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Springer India
Abstract
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Keywords
Aortic, Congenital, Nphs1, Stenosis, 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, Membrane protein, Nephrin, Stop codon, Aorta valve stenosis, Complication, Genetic predisposition, Genetics, Human, Molecular genetics, Nucleotide sequence