Repository logo
 
Publication

Screening of pathogenic variants of the DMD gene in female patients with undetermined muscular dystrophy

2019-05-17Conference object Open access
Simple item page
dc.contributor.authorMorais, Mara
dc.contributor.authorGonçalves, Ana
dc.contributor.authorMota, Sandra
dc.contributor.authorAmorim, Manuela
dc.date.accessioned2021-12-06T15:23:19Z
dc.date.available2021-12-06T15:23:19Z
dc.date.issued2019-05-17
dc.description.abstractDystrophinopathy (Duchenne/Becker muscular dystrophy, DMD/BMD), a progressive neuromuscular disease with an X-linked recessive inheritance, is caused by pathogenic variants in the DMD gene, including large deletions (68%), duplications (11%), point variants (20%) and others. Although the majority of females heterozygous for these variants are asymptomatic, about 2.5-7.8% may have some symptom manifestations.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMorais, M., Gonçalves, A., Mota, S., & Amorim, M. M. (2019). Screening of pathogenic variants of the DMD gene in female patients with undetermined muscular dystrophy. 4th Meeting of Medicinal Biotechnology, 23.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.22/18997
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherEscola Superior Saúde Instituto Politécnico Portopt_PT
dc.relation.publisherversionhttps://paginas.ess.ipp.pt/ebtm/2019/
dc.subjectDuchenne Becker muscular dystrophypt_PT
dc.subjectSymptomatic female carrierspt_PT
dc.subjectDMD genept_PT
dc.subjectX-chromosome inactivationpt_PT
dc.titleScreening of pathogenic variants of the DMD gene in female patients with undetermined muscular dystrophypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlacePortopt_PT
oaire.citation.endPage23pt_PT
oaire.citation.startPage23pt_PT
oaire.citation.title4TH MEETING OF MEDICINAL BIOTECHNOLOGYpt_PT
person.familyNameMota
person.familyNameAmorim Sousa
person.givenNameSandra
person.givenNameMaria Manuela
person.identifier.ciencia-id0A19-207B-6C63
person.identifier.ciencia-idCD1D-1B47-A971
person.identifier.orcid0000-0002-2803-7230
person.identifier.orcid0009-0006-1887-4840
person.identifier.scopus-author-id6603695681
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublicationf73a5c8e-1621-435f-a34f-c3cc83924875
relation.isAuthorOfPublication10df22ed-9823-452e-89a8-8cbe89e717ec
relation.isAuthorOfPublication.latestForDiscovery10df22ed-9823-452e-89a8-8cbe89e717ec

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
POSTER_Sandra Mota.pdf
Size:
61.24 KB
Format:
Adobe Portable Document Format
Download

Collections

ESS - ACSP - Posters apresentados em eventos científicos
ESS - CISA - Posters apresentados em eventos científicos