G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

Source:http://linkedlifedata.com/resource/pubmed/id/1672129

J. Biol. Chem. 1991 Mar 15 266 8 5256-9

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PMID
1672129