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A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proα1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)WENSTRUP, R. J; LANGLAND, G. T; WILLING, M. C et al.Human molecular genetics (Print). 1996, Vol 5, Num 11, pp 1733-1736, issn 0964-6906Article

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