| http://purl.uniprot.org/citations/12650905 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12650905 | http://www.w3.org/2000/01/rdf-schema#comment | "Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the large joints. It is caused by the mutations of SEDL gene. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function of the gene could be predicted. However, this mutation has not been detected in 50 age and sex matched unrelated controls."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0027-5107(02)00315-9"xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/author | "Su Z."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/author | "Wang J."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/author | "Zhang S."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/author | "Qiu W."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/author | "Xiao C."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/author | "Chi L."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/name | "Mutat Res"xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/pages | "61-65"xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/title | "A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family."xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://purl.uniprot.org/core/volume | "525"xsd:string |
| http://purl.uniprot.org/citations/12650905 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12650905 |
| http://purl.uniprot.org/citations/12650905 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12650905 |
| http://purl.uniprot.org/uniprot/#_P0DI81-mappedCitation-12650905 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12650905 |
| http://purl.uniprot.org/uniprot/P0DI81 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/12650905 |