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

Gostyńska, Katarzyna B.; Nijenhuis, Miranda; Lemmink, Henny; Pas, Hendri H.; Pasmooij, Anna M.G.; Kernland Lang, Kristin; Castañón, Maria J.; Wiche, Gerhard; Jonkman, Marcel F. (2015). Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Human molecular genetics, 24(11), pp. 3155-3162. Oxford University Press 10.1093/hmg/ddv066

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Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Dermatology

UniBE Contributor:

Kernland Lang, Kristin Helene

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0964-6906

Publisher:

Oxford University Press

Language:

English

Submitter:

Markus Müller

Date Deposited:

16 Oct 2018 12:42

Last Modified:

16 Oct 2018 12:42

Publisher DOI:

10.1093/hmg/ddv066

BORIS DOI:

10.7892/boris.115731

URI:

https://boris.unibe.ch/id/eprint/115731

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