Clinical and molecular diagnosis in inherited kidney diseases: three examples.
Grünfeld
J P
JP
Service de Néphrologie, Hôpital Necker, Paris, France.
Lesavre
P
P
Richard
S
S
D003094:Collagen / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008025:Ligases; D008297:Male; D009154:Mutation / Q000235:genetics; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics*
D011506:Proteins; D025521:Tumor Suppressor Proteins; D003094:Collagen; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human