| http://purl.uniprot.org/citations/16220557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16220557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16220557 | http://www.w3.org/2000/01/rdf-schema#comment | "Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable and includes involvement of the cardiovascular, skeletal, ocular, and other organ systems; however, the genotype-phenotype correlations have not been well developed. Various screening methods have led to the identification of about 600 different mutations (FBN1-UMD database; www.umd.be). In this study we performed SSCP and/or direct sequencing to analyze all 65 exons of the FBN1 gene in 116 patients presenting with classic MFS or related phenotypes. Twenty-nine novel and nine recurrent mutations were identified in 38 of the analyzed patients. The mutations comprised 18 missense (47%), eight nonsense (21%), and five splice site (13%) mutations. Seven further mutations (18%) resulted from deletion, insertion, or duplication events, six of which led to a frameshift and subsequent premature termination. Additionally, we describe new polymorphisms and sequence variants. On the basis of the data presented here and in a previous study, we were able to establish highly significant correlations between the FBN1 mutation type and the MFS phenotype in a group of 76 mutation-positive patients for whom comprehensive clinical data were available. Most strikingly, there was a significantly lower incidence of ectopia lentis in patients who carried a mutation that led to a premature termination codon (PTC) or a missense mutation without cysteine involvement in FBN1, as compared to patients whose mutations involved a cysteine substitution or splice site alteration."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20239"xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20239"xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Singh K.K."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Singh K.K."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Schmidtke J."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Schmidtke J."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Arslan-Kirchner M."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Arslan-Kirchner M."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Haverich A."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Haverich A."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Karck M."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Karck M."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Muller G."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Muller G."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Rommel K."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Rommel K."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Rybczynski M."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "Rybczynski M."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "von Kodolitsch Y."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/author | "von Kodolitsch Y."xsd:string |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16220557 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |