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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
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Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha(2)beta(1) integrin, and recruit alpha(v)beta(3) instead of alpha(5)beta(1) integrin
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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
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Homozygosity mapping of a gene for arterial tortuosity snydrome
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Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.