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Karger

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Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1

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Oxford University Press

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Mutations in TITF-1 are associated with benign hereditary chorea

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ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

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Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy

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