No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Child
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Child, Preschool
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Codon, Nonsense*
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Cohort Studies
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Cytoskeletal Proteins
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DNA Mutational Analysis
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Female
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Gene Frequency
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Genes, Recessive
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Heterozygote
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Humans
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Italy / epidemiology
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Male
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Membrane Proteins
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Nephritis, Interstitial / epidemiology
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Nephritis, Interstitial / genetics*
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Pedigree
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Polycystic Kidney Diseases / epidemiology
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Polycystic Kidney Diseases / genetics*
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Proteins / genetics*
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RNA Splice Sites / genetics*
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Sequence Deletion
Substances
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Adaptor Proteins, Signal Transducing
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Codon, Nonsense
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Cytoskeletal Proteins
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Membrane Proteins
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NPHP1 protein, human
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Proteins
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RNA Splice Sites