GenomeNet

Database: PubMed
Entry: 7870075
LinkDB: 7870075
Original site: 7870075 
PMID:
     7870075
Authors:
     Hayward C, Porteous ME, Brock DJ.
Title:
     A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Journal:
     Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045.
Abstract:
     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
     arachnodactyly.

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