Приказ основних података о документу
Proximal dystrophin gene deletions and protein alterations in Becker muscular dystrophy
dc.creator | Novaković, I. | |
dc.creator | Bojić, D | |
dc.creator | Todorović, S | |
dc.creator | Apostolski, Slobodan | |
dc.creator | Luković, L | |
dc.creator | Stefanović, D | |
dc.creator | Milašin, Jelena | |
dc.date.accessioned | 2020-07-02T12:08:28Z | |
dc.date.available | 2020-07-02T12:08:28Z | |
dc.date.issued | 2005 | |
dc.identifier.issn | 0077-8923 | |
dc.identifier.uri | https://smile.stomf.bg.ac.rs/handle/123456789/1251 | |
dc.description.abstract | Alterations in production of cytoskeletal protein dystrophin caused by in-frame gene, mutations lead to the Becker muscular dystrophy. In this study we analyzed genotype-phenotype correlation in a group of Becker musculaudystrophy patients with deletions affecting the proximal part of dystrophin gene, encompassing exons 3-13. Four patients with deletions affecting N terminal dystrophin domain had early onset and faster progression of the disease, while three patients with deletions in the proximal part, of dystrophin's rod domain had a more benign disease course. Our study suggests that proximal gene deletions in Becker muscular dystrophy have various phenotypic effects depending on the affected domain of protein dystrophin. | en |
dc.publisher | New York Acad Sciences, New York | |
dc.rights | restrictedAccess | |
dc.source | Biophysics from Molecules to Brain: in Memory of Radoslav K. Andjus | |
dc.subject | dystrophin | en |
dc.subject | gene | en |
dc.subject | proximal deletions | en |
dc.subject | BMD | en |
dc.title | Proximal dystrophin gene deletions and protein alterations in Becker muscular dystrophy | en |
dc.type | article | |
dc.rights.license | ARR | |
dcterms.abstract | Стефановић, Д; Милашин, Јелена; Новаковић, И; Бојић, Д; Aпостолски, Слободан; Луковић, Л; Тодоровић, С; | |
dc.citation.volume | 1048 | |
dc.citation.spage | 406 | |
dc.citation.epage | 410 | |
dc.citation.other | 1048: 406-410 | |
dc.citation.rank | M21 | |
dc.identifier.wos | 000233712300047 | |
dc.identifier.doi | 10.1196/annals.1342.050 | |
dc.identifier.pmid | 16154963 | |
dc.identifier.scopus | 2-s2.0-25144441690 | |
dc.type.version | publishedVersion |