| http://purl.uniprot.org/citations/7611299 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7611299 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7611299 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and that a significant number of FBN1 mutations have been identified in affected individuals. We have now devised a method to screen the entire coding sequence and flanking splice junctions of FBN1. On completion for a panel of nine probands with classic MFS, six new mutations were identified that accounted for disease in seven (78%) of nine patients. Nine additional new mutations have been characterized in the early stages of a larger screening project. These 15 mutations were equally distributed throughout the gene and, with one exception, were specific to single families. One-third of mutations created premature termination codons, and 6 of 15 substituted residues with putative significance for calcium binding to epidermal growth factor (EGF)-like domains. Mutations causing severe and rapidly progressive disease that presents in the neonatal period can occur in a larger region of the gene than previously demonstrated, and the nature of the mutation is as important a determinant as its location, in predisposing to this phenotype."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Pereira L."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Pereira L."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Pyeritz R.E."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Pyeritz R.E."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Francomano C.A."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Francomano C.A."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Dietz H.C."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Dietz H.C."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "McIntosh I."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "McIntosh I."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Ramirez F."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Ramirez F."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Bull E."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Bull E."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Nijbroek G."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Nijbroek G."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Sood S."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/author | "Sood S."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7611299 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |