Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

This publication has 19 references indexed in Scilit:

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  American Journal of Human Genetics, 1999
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• A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)
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