Compound heterozygosity for a disease-ca
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Giunta, Cecilia; Steinmann, Beat
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Article
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2000
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John Wiley and Sons
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English
β 55 KB
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The classical type of Ehlers-Danlos syndrome (EDS) is an autosomal dominant connective tissue disorder characterized by skin hyperelasticity, tissue fragility, and joint hypermobility. We investigated the molecular defect of EDS in a three-generation family. Cultured dermal fibroblasts from the prop