Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.
Chen
F
F
Science Applications International Corp, Frederick, MD 21702, USA.
Slife
L
L
Kishida
T
T
Mulvihill
J
J
Tisherman
S E
SE
Zbar
B
B
D004252:DNA Mutational Analysis; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005838:Genotype; D005858:Germany / Q000208:ethnology; D006801:Humans; D008025:Ligases; D010414:Pennsylvania / Q000453:epidemiology; D010641:Phenotype; D010673:Pheochromocytoma / Q000150:complications / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000150:complications / 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