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Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

✍ Scribed by Laiho, Elina; Niemi, Kirsti-Maria; Ignatius, Jaakko; Kere, Juha; Palotie, Aarno; Saarialho-Kere, Ulpu


Book ID
110024855
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
791 KB
Volume
7
Category
Article
ISSN
1018-4813

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Transglutaminase-1 gene mutations in aut
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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 United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. Structurall