Authors:
Schwarze, Ulrike
Hata, Ryu-Ichiro
McKusick, Victor A.
Shinkai, Hiroshi
Hoyme, H. Eugene
Pyeritz, Reed E.
Byers,Peter H.
Citation: Schwarze, Ulrike et al., 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, American journal of human genetics , 74(5), 2004, pp. 917-930