AMACO is a novel component of the basement membrane associated Fraser complex

Fraser syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cutaneous syndactyly and other malformations resulting from mutations in FRAS1, FREM2 and GRIP1. Transient embryonic epidermal blistering causes the characteristic defects of the disorde...

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Bibliografiske detaljer
Udgivet i:J Invest Dermatol
Main Authors: Richardson, Rebecca J., Gebauer, Jan M., Zhang, Jin-Li, Kobbe, Birgit, Keene, Douglas R., Karlsen, Kristina Røkenes, Richetti, Stefânia, Wohl, Alexander P., Sengle, Gerhard, Neiss, Wolfram F., Paulsson, Mats, Hammerschmidt, Matthias, Wagener, Raimund
Format: Artigo
Sprog:Inglês
Udgivet: 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361737/
https://ncbi.nlm.nih.gov/pubmed/24232570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2013.492
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