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Genotype–phenotype correlations in von hippel–lindau disease
Author(s) -
H P Neumann,
B U Bender
Publication year - 1998
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1046/j.1365-2796.1998.00336.x
Subject(s) - von hippel–lindau disease , asymptomatic , mutation , medicine , genetics , genotype , germline mutation , phenotype , asymptomatic carrier , germline , gene , disease , genotype phenotype distinction , genetic counseling , biology , pathology
Neumann HPH, Bender BU (University of Freiburg, Germany). Genotype–phenotype correlations in von hippel–lindau disease (Minisymposium: MEN & VHL). J Intern Med 1998; 243 : 541–5. A total of 146 intragenic germline mutations of the von Hippel–Lindau (VHL) gene are known and this figure is still increasing. To date, information for mutation‐specific genetic counselling is insufficient, since either the total number of carriers is very low or clinical information and investigation of symptomatic and asymptomatic is incomplete. This review summarizes all known mutations and includes the centres which performed the mutation analyses and may provide further information regarding specific mutations.