dc.contributor.author | Schweitzer, S | |
dc.contributor.author | Scholl, S | |
dc.contributor.author | Das, AM | |
dc.contributor.author | Pronicka, E | |
dc.contributor.author | Sykut-Cegielska, J | |
dc.contributor.author | Huner, Gülden Fatma | |
dc.contributor.author | Wolf, B | |
dc.contributor.author | Jensen, K | |
dc.contributor.author | Demirkol, M | |
dc.contributor.author | Baykal, T | |
dc.contributor.author | Divry, P | |
dc.contributor.author | Rolland, MO | |
dc.contributor.author | Perez-Cerda, C | |
dc.contributor.author | Ugarte, M | |
dc.contributor.author | Straussberg, R | |
dc.contributor.author | Basel-Vanagaite, L | |
dc.contributor.author | Baumgartner, ER | |
dc.contributor.author | Suormala, T | |
dc.date.accessioned | 2021-03-05T08:37:17Z | |
dc.date.available | 2021-03-05T08:37:17Z | |
dc.identifier.citation | Wolf B., Jensen K., Huner G. F. , Demirkol M., Baykal T., Divry P., Rolland M., Perez-Cerda C., Ugarte M., Straussberg R., et al., "Seventeen novel mutations that cause profound biotinidase deficiency.", Molecular genetics and metabolism, cilt.77, ss.108-11, 2002 | |
dc.identifier.issn | 1096-7192 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_99ccd412-6529-4fa9-b71f-83364d266f6d | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/103429 | |
dc.identifier.uri | https://doi.org/10.1016/s1096-7192(02)00149-x | |
dc.description.abstract | We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining I I mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined. (C) 2002 Elsevier Science (USA). All rights reserved. | |
dc.language.iso | eng | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.subject | Klinik Tıp | |
dc.subject | Tıp | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Sağlık Bilimleri | |
dc.title | Seventeen novel mutations that cause profound biotinidase deficiency. | |
dc.type | Makale | |
dc.relation.journal | Molecular genetics and metabolism | |
dc.contributor.department | İstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp | |
dc.identifier.volume | 77 | |
dc.identifier.startpage | 108 | |
dc.identifier.endpage | 11 | |
dc.contributor.firstauthorID | 165962 | |