COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II |
| |
Authors: | Bouma P Cabral W A Cole W G Marini J C |
| |
Institution: | Heritable Disorders Branch/NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA. |
| |
Abstract: | |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|