Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.
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DOI: 10.1016/j.bone.2018.01.002
Abstract: The large majority of cases of the autosomal dominant human disease fibrodysplasia ossificans progressiva (FOP) are caused by gain-of-function Arg206His mutations in the BMP type I receptor ACVR1 (ALK2). The Arg206His mutation is located in… read more here.
Keywords: acvr1 gly328; bmp; ligand independent; bmp ligand ... See more keywords