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  • Molecular assay reagents intended to identify mutations in the transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1) gene, located at chromosome 14q11.2, which encodes for a membrane protein that catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. This inherited genetic mutation has been identified in patients with autosomal recessive congenital ichthyosis (ARCI).
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