Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
| dc.contributor.author | THIEL, S | |
| dc.contributor.author | Altunoglu, UMUT | |
| dc.contributor.author | KAYSERILI, H | |
| dc.contributor.author | TEKIN, M | |
| dc.contributor.author | KOPARIR, Asuman | |
| dc.contributor.author | ATIK, T | |
| dc.contributor.author | BADEMCI, G | |
| dc.contributor.author | FOSTER, J 2ND | |
| dc.contributor.author | MUTLU, GY | |
| dc.contributor.author | BOWDIN, S | |
| dc.contributor.author | ELCIOGLU, N | |
| dc.contributor.author | TAYFUN, GA | |
| dc.contributor.author | ATIK, SS | |
| dc.contributor.author | OZEN, M | |
| dc.contributor.author | OZKINAY, F | |
| dc.contributor.author | ALANAY, Y | |
| dc.date.accessioned | 2021-03-03T18:34:18Z | |
| dc.date.available | 2021-03-03T18:34:18Z | |
| dc.identifier.citation | ATIK T., KOPARIR A., BADEMCI G., FOSTER J. 2. , Altunoglu U., MUTLU G., BOWDIN S., ELCIOGLU N., TAYFUN G., ATIK S., et al., "Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.", Orphanet journal of rare diseases, cilt.10, ss.128, 2015 | |
| dc.identifier.issn | 1750-1172 | |
| dc.identifier.other | vv_1032021 | |
| dc.identifier.other | av_4fcabc22-b271-4dad-99b1-a44c362daccd | |
| dc.identifier.uri | http://hdl.handle.net/20.500.12627/56864 | |
| dc.identifier.uri | https://doi.org/10.1186/s13023-015-0345-3 | |
| dc.language.iso | eng | |
| dc.title | Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. | |
| dc.type | Makale | |
| dc.relation.journal | Orphanet journal of rare diseases | |
| dc.contributor.department | Ege Üniversitesi , , | |
| dc.identifier.volume | 10 | |
| dc.identifier.startpage | 128 | |
| dc.identifier.endpage | 128 | |
| dc.contributor.firstauthorID | 182162 |
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Makale [92796]
