DOI: 10.1055/s-00039245

AORTA

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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