DOI: 10.1055/s-00000034

Klinische Pädiatrie

References

Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA.
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 
Genomics. 1993; 17: 468-475  

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