Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case
| dc.authorid | 7768 | en_US |
| dc.contributor.author | Sığırcı, Ahmet | |
| dc.contributor.author | Alkan, Alpay | |
| dc.contributor.author | Kutlu, Ramazan | |
| dc.contributor.author | Gülcan, Hande | |
| dc.date.accessioned | 2017-06-23T08:19:34Z | |
| dc.date.available | 2017-06-23T08:19:34Z | |
| dc.date.issued | 2005 | |
| dc.department | İnönü Üniversitesi | en_US |
| dc.description.abstract | We screened 29 children with autism for mutation in the human secretin gene using single-strand conformation polymorphism. No mutation was detected in exon 2, 3, or 4. Polymerase chain reaction and DNA sequence of 5´ variable number of tandem repeats showed two polymorphisms with deletion or duplication of a repeat unit that failed to show any gene expression with transient transfection assay. We did not find evidence of a relationship between human secretin gene mutation and autism. | en_US |
| dc.identifier.citation | Sığırcı, A. Alkan, A. Kutlu, R. Gülcan, H. (2005). Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. J Child Neurol. 20- (8); 698-701. | en_US |
| dc.identifier.endpage | 701 | en_US |
| dc.identifier.issue | 8 | en_US |
| dc.identifier.startpage | 698 | en_US |
| dc.identifier.uri | https://hdl.handle.net/11616/7155 | |
| dc.identifier.volume | 20 | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | J Child Neurol | en_US |
| dc.relation.ispartof | J Child Neurol | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.title | Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case | en_US |
| dc.type | Article | en_US |
