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Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

✍ Scribed by Elina Laiho; Jaakko Ignatius; Hanna Mikkola; Vivien C. Yee; David C. Teller; Kirsti-Maria Niemi; Ulpu Saarialho-Kere; Juha Kere; Aarno Palotie


Book ID
117855154
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
249 KB
Volume
61
Category
Article
ISSN
0002-9297

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Transglutaminase-1 gene mutations in aut
✍ Matthew L. Herman; Sharifeh Farasat; Peter J. Steinbach; Ming-Hui Wei; Ousmane T πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 507 KB

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