Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

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Serval ID
serval:BIB_C474A87F5298
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
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
Author(s)
Higgins R, Jensen A, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Ignatova D, Chang Y, Fischer T, Schwieger-Briel A, French L, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Guenova E
ISSN
0001-5555
Publication state
Published
Issued date
2019
Pages
0
Language
english
Keywords
Dermatology, General Medicine
URN
urn:nbn:ch:serval-BIB_C474A87F52985
OAI-PMH
oai:serval.unil.ch:BIB_C474A87F5298
DOI
10.2340/00015555-3313
Pubmed
31502654
Open Access
Yes
Create date
31/01/2020 9:52
Last modification date
05/08/2020 6:26
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