Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy
Authors: Francesco Emma; Gianluca Caridi; Francesco Perfumo; Antonella Trivelli; Monica Dagnino; Gian Marco Ghiggeri;
doi: 10.1093/ndt/gfl277
pmid: 16762963
Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy
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Keywords
Male, Heterozygote, Polycystic Kidney Diseases, DNA Mutational Analysis, Membrane Proteins, Proteins, Genes, Recessive, Pedigree, Cohort Studies, Cytoskeletal Proteins, Gene Frequency, Italy, Codon, Nonsense, Child, Preschool, Humans, Nephritis, Interstitial, Female, RNA Splice Sites, Child, Adaptor Proteins, Signal Transducing
Male, Heterozygote, Polycystic Kidney Diseases, DNA Mutational Analysis, Membrane Proteins, Proteins, Genes, Recessive, Pedigree, Cohort Studies, Cytoskeletal Proteins, Gene Frequency, Italy, Codon, Nonsense, Child, Preschool, Humans, Nephritis, Interstitial, Female, RNA Splice Sites, Child, Adaptor Proteins, Signal Transducing
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citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
popularity
Popularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
8
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