doi: 10.1006/mcpr.1994.1045.
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly
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- PMID: 7870075
- DOI: 10.1006/mcpr.1994.1045
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A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly
Mol Cell Probes.
1994 Aug.
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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