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- W2048607564 abstract "Vascular anomalies are congenital lesions that usually occur sporadically, but can be inherited. Previously, we have described that venous malformations, localized bluish-purple skin lesions, are caused by an activating mutation in the TIE2/TEK receptor. Moreover, we mapped another locus to chromosome 1p21-p22, for venous malformations with glomus cells (VM-GLOM). Here we report a physical map, based on 18 overlapping YAC clones, spanning this 5-Mb VMGLOM locus, from marker GATA63C06 to D1S2664. In addition, we report a sequence-ready PAC map of 46 clones covering 1.48 Mb within the YAC contig, a region to which we have restricted VMGLOM. We describe 21 new STSs and nine novel CA repeats, seven of which are polymorphic. These data will enable positional cloning of genes for diseases mapped to this locus, including the VMGLOM gene, likely a currently unknown regulator of vasculogenesis and/or angiogenesis." @default.
- W2048607564 created "2016-06-24" @default.
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- W2048607564 date "2000-07-01" @default.
- W2048607564 modified "2023-10-17" @default.
- W2048607564 title "High-Resolution Physical and Transcript Map of the Locus for Venous Malformations with Glomus Cells (VMGLOM) on Chromosome 1p21–p22" @default.
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- W2048607564 doi "https://doi.org/10.1006/geno.2000.6232" @default.
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