Title : Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS).

Pub. Date : 2007 Oct

PMID : 17984934






1 Functional Relationships(s)
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1 The novel non-synonymous mutation, c.3022T>C (C1008R) in the TB domain of FBN1 gene, may be involved in the pathogenesis of MFS in a Han Chinese family. Terbium fibrillin 1 Homo sapiens