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Novel mutations of COL3A1 resulting in Ehlers-Danlos syndrome type IV and their effect on the folding of type III procollagen
Ehlers-Danlos syndrome type IV (EDS IV) is an inherited disease caused by mutation of COL3A1, the gene that encodes type III procollagen. Different mutations produce the disease: point mutations, exon skipping mutations and genomic insertations and deletions. The effect of these different lesions on type III procollagen, the ...