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Transglutaminase-1 (TGM1) Gene Mutations in Autosomal Recessive Congenital Ichthyosis: Summary of Mutations (Including 23 Novel) and Modeling of TGase-1

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the US. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. We review the clinical...

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Hlavní autoři: Herman, Matthew L., Farasat, Sharifeh, Steinbach, Peter J., Wei, Ming-Hui, Toure, Ousmane, Fleckman, Philip, Blake, Patrick, Bale, Sherri J., Toro, Jorge R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3243309/
https://ncbi.nlm.nih.gov/pubmed/19241467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20952
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