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2001 | 1 |
2004 | 1 |
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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.
J Biol Chem. 2001 Apr 20;276(16):13356-64. doi: 10.1074/jbc.M011742200. Epub 2001 Jan 19.
J Biol Chem. 2001.
PMID: 11278977
Free article.
Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.
Wenstrup RJ, Florer JB, Cole WG, Willing MC, Birk DE.
Wenstrup RJ, et al.
J Cell Biochem. 2004 May 1;92(1):113-24. doi: 10.1002/jcb.20024.
J Cell Biochem. 2004.
PMID: 15095409
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