Iris Schrijver
Publication Details
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Multi-exon deletions of the FBN1 gene in Marfan syndrome.
BMC Med Genet. 2001: 11
Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a genomic multi-exon deletion.
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