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)

Author： Wenstrup Richard J.   Langland Gregory T.   Willing Marcia C.   D'Souza Vinita N.   Cole William G.  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.5, Iss.11, 1996-11, pp. : 1733-1736

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