A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Source:http://linkedlifedata.com/resource/pubmed/id/2145268

J. Biol. Chem. 1990 Oct 5 265 28 17070-7

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2145268