A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
Open Access
- 1 March 1992
- journal article
- case report
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 267 (9) , 6361-6369
- https://doi.org/10.1016/s0021-9258(18)42703-2
Abstract
No abstract availableKeywords
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