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Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The d...

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Detaylı Bibliyografya
Asıl Yazarlar: Aufenvenne, Karin, Larcher, Fernando, Hausser, Ingrid, Duarte, Blanca, Oji, Vinzenz, Nikolenko, Heike, Del Rio, Marcela, Dathe, Margitta, Traupe, Heiko
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2013
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791258/
https://ncbi.nlm.nih.gov/pubmed/24055110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.08.003
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