Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.
Caridi
Gianluca
G
Laboratory on Pathophysiology of Uremia, G. Gaslini Children Hospital, Largo G. Gaslini 5, 16148 Genova, Italy.
Dagnino
Monica
M
Trivelli
Antonella
A
Emma
Francesco
F
Perfumo
Francesco
F
Ghiggeri
Gian Marco
GM
D048868:Adaptor Proteins, Signal Transducing; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D015331:Cohort Studies; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008565:Membrane Proteins; D009395:Nephritis, Interstitial / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000453:epidemiology / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D017384:Sequence Deletion
D048868:Adaptor Proteins, Signal Transducing; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins; D022821:RNA Splice Sites