| http://purl.uniprot.org/citations/14735158 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14735158 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14735158 | http://www.w3.org/2000/01/rdf-schema#comment | "Surfactant protein C (SP-C) is a small hydrophobic protein component of alveolar surfactant, a lipid-protein complex lining the alveolar surface of the lung. Surfactant deficiency is the main cause of respiratory distress syndrome (RDS) in premature infants. RDS is a major risk factor of a chronic lung disease called bronchopulmonary dysplasia (BPD). The dominant mutations of the SP-C gene have recently been associated with interstitial lung diseases. However, the common genetic variation in the surfactant protein C gene has not been studied in detail. In the present study, the exonic variation of the SP-C gene in the Finnish population (n=472) was defined, and the association of the allelic variants with the susceptibility to RDS and BPD was examined. Conformation-sensitive gel electrophoresis (CSGE) was used to determine the extent of exonic variation in the SP-C gene. Methods of genotyping were generated for three biallelic polymorphisms of the SP-C gene's exons 1, 4 and 5, which encode proSP-C. The frequencies of these polymorphisms were evaluated in a study population consisting of 158 DNA samples from full-term infants. In addition, the linkage disequilibrium between the SP-C alleles was evaluated by haplotype analysis of parent-infant triplets. The role of SP-C gene variation in RDS and in BPD was evaluated in a high-risk population of 245 premature infants. According to the present results, the SP-C polymorphisms were associated with RDS and with very premature birth. The strength of allelic associations differed according to the gender of the premature infants."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.ejhg.5201137"xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.ejhg.5201137"xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/author | "Lahti M."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/author | "Lahti M."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/author | "Hallman M."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/author | "Hallman M."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/author | "Marttila R."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/author | "Marttila R."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/pages | "312-320"xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/pages | "312-320"xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/title | "Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/title | "Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease."xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/14735158 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/14735158 |
| http://purl.uniprot.org/citations/14735158 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/14735158 |
| http://purl.uniprot.org/citations/14735158 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/14735158 |
| http://purl.uniprot.org/citations/14735158 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/14735158 |