RT Journal Article
SR Electronic
T1 Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 716
OP 717
DO 10.1136/jmg.33.8.716
VO 33
IS 8
A1 F Chen
A1 L Slife
A1 T Kishida
A1 J Mulvihill
A1 S E Tisherman
A1 B Zbar
YR 1996
UL http://jmg.bmj.com/content/33/8/716.abstract
AB 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.