Article
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
Nature genetics - 1 Jun 2000
Karkkainen M J, Ferrell R E, Lawrence E C, Kimak M A, Levinson K L, McTigue M A, Alitalo K, Finegold D N
Abstract excerpt
Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3 (VEGFR-3), in several families. All disease-associated alleles analysed had missense mutations and encoded proteins with an...
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