Database: PubMedEntry: 7870075
Original site: 7870075
Hayward C, Porteous ME, Brock DJ.
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045.
Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's
syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a
novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible
for an atypical marfanoid phenotype characterised by dolichostenomelia and
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