![](/img/cover-not-exists.png)
Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway
Ulrike Schwarze, Ryu-Ichiro Hata, Victor A. McKusick, Hiroshi Shinkai, H. Eugene Hoyme, Reed E. Pyeritz, Peter H. ByersVolume:
74
Year:
2004
Language:
english
DOI:
10.1086/420794
File:
PDF, 2.39 MB
english, 2004