TY - JOUR 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 SP - 716 LP - 717 DO - 10.1136/jmg.33.8.716 VL - 33 IS - 8 AU - F Chen AU - L Slife AU - T Kishida AU - J Mulvihill AU - S E Tisherman AU - B Zbar Y1 - 1996/08/01 UR - http://jmg.bmj.com/content/33/8/716.abstract N2 - 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. ER -