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
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene
โ Scribed by P.B. Cserhalmi-Friedman; L.M. Milstone; A.M. Christiano
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 304 KB
- Volume
- 144
- Category
- Article
- ISSN
- 0007-0963
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