fibrillin-1
Fibrillin-1 is the major component of extracellular microfibrils.
mutations in the FBN1 gene in Marfan syndrome and other type 1 fibrillinopathies
in frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome (#12525539#)
mutation in familial kyphoscoliosis and vertebral dysplasia (#11992479#)
References
Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 1995;4 Spec No:1799-809. PMID: #8541880#
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