DOI:
10.1055/s-00039245
AORTA
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References
Schwarze U, Hata R, McKusick VA. , 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.
Am J Hum Genet 2004;
74 (05) 917-930
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