Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients.
Moore
P S
PS
Department of Pathology, Section of Anatomical Pathology, Università di Verona, Università di Bologna, Italy.
Antonello
D
D
Martignoni
G
G
Racchini
C
C
Ventrucci
M
M
Scarpa
A
A
D019943:Amino Acid Substitution / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007558:Italy; D008025:Ligases; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics*
D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human; D003545:Cysteine; D005998:Glycine