Rare Autosomal Recessive Cardiac Valvular Form of...

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. Byers
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Volume:
74
Year:
2004
Language:
english
DOI:
10.1086/420794
File:
PDF, 2.39 MB
english, 2004
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