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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

✍ Scribed by Russell, Laura J.; DiGiovanna, John J.; Rogers, Geraldine R.; Steinert, Peter M.; Hashem, Nemat; Compton, John G.; Bale, Sherri J.


Book ID
109915415
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
629 KB
Volume
9
Category
Article
ISSN
1061-4036

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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