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COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome |
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| Authors: | Symoens Sofie Malfait Fransiska Renard Marjolijn André Josette Hausser Ingrid Loeys Bart Coucke Paul De Paepe Anne |
| Affiliation: | Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium. |
| Abstract: | |
| Keywords: | type V (pro)collagen classic EDS signal peptide mutation COL5A1 |
| 本文献已被 PubMed 等数据库收录！ | |