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Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

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cris.virtualsource.author-orcidaace3a46-7d7f-402c-994d-7bba2dab84af
datacite.rightsopen.access
dc.contributor.authorGostyńska, Katarzyna B.
dc.contributor.authorNijenhuis, Miranda
dc.contributor.authorLemmink, Henny
dc.contributor.authorPas, Hendri H.
dc.contributor.authorPasmooij, Anna M.G.
dc.contributor.authorKernland Lang, Kristin Helene
dc.contributor.authorCastañón, Maria J.
dc.contributor.authorWiche, Gerhard
dc.contributor.authorJonkman, Marcel F.
dc.date.accessioned2024-10-25T14:40:36Z
dc.date.available2024-10-25T14:40:36Z
dc.date.issued2015
dc.description.numberOfPages8
dc.description.sponsorshipUniversitätsklinik für Dermatologie
dc.identifier.doi10.7892/boris.115731
dc.identifier.publisherDOI10.1093/hmg/ddv066
dc.identifier.urihttps://boris-portal.unibe.ch/handle/20.500.12422/161405
dc.language.isoen
dc.publisherOxford University Press
dc.relation.ispartofHuman molecular genetics
dc.relation.issn0964-6906
dc.relation.organizationDCD5A442BAD9E17DE0405C82790C4DE2
dc.subject.ddc600 - Technology::610 - Medicine & health
dc.titleMutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex
dc.typearticle
dspace.entity.typePublication
dspace.file.typetext
oaire.citation.endPage3162
oaire.citation.issue11
oaire.citation.startPage3155
oaire.citation.volume24
oairecerif.author.affiliationUniversitätsklinik für Dermatologie
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unibe.date.embargoChanged2018-10-16 10:37:15
unibe.date.licenseChanged2019-10-24 20:30:49
unibe.description.ispublishedpub
unibe.eprints.legacyId115731
unibe.journal.abbrevTitleHUM MOL GENET
unibe.refereedtrue
unibe.subtype.articlejournal

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