Article
Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.
European journal of human genetics : EJHG - 1 Jan 2001
Irrthum A, Brouillard P, Enjolras O, Gibbs N F, Eichenfield L F, Olsen B R, Mulliken J B, Boon L M, Vikkula M
Abstract excerpt
Venous malformations with glomus cells are localised cutaneous lesions of vascular dysmorphogenesis. They are usually sporadic, but sometimes familial. Using five families, we mapped the locus, VMGLOM, to chromosome 1p21-p22. In order to refine this locus, spanning 4-6 Mbp, we then studied seven additional families. They exhibited linkage to VMGLOM and the combined lod score for all 12 families was 18.41 at theta...
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