Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID
4514970
Author(s)
Higgins, Rebecca; Jensen, Annika N.; Wachstein, Julian; Bruckner-Tuderman, Leena; Spiegel, Roland; Traber, Hubert; Achermann, Josef; Schaller, Martin; Fehrenbacher, Birgit; Röcken, Martin; Ignatova, Desislava; Chang, Yun-Tsan; Fischer, Tina; Schwieger-Briel, Agnes E.; French, Lars E.; Hoetzenecker, Wolfram; Hornung, René; Malzacher, Andreas; Cozzio, Antonio; Navarini, Alexander; Has, Cristina; Guenova, Emmanuella
Author(s) at UniBasel
Navarini, Alexander
Year
2019
Title
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Journal
Acta Dermato-Venereologica
Volume
100
Number
1
Pages / Article-Number
adv00041
Publisher
Society for Publication of Acta Dermato-Venereologica
ISSN/ISBN
0001-5555 ; 1651-2057
edoc-URL
https://edoc.unibas.ch/72204/
Full Text on edoc
No
Digital Object Identifier DOI
10.2340/00015555-3313
PubMed ID
http://www.ncbi.nlm.nih.gov/pubmed/31502654
ISI-Number
WOS:000528191000001
Document type (ISI)
Journal Article
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