title: Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Suga
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D000595:Amino Acid Sequence; D001120:Arginine / Q000737:chemistry; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D007930:Leucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010649:Phenylalanine / Q000235:genetics; D011379:Prognosis; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D010649:Phenylalanine; D001120:Arginine; D011503:Transglutaminases; C105804:transglutaminase 1; D007930:Leucine
keywords: ARCI; Autosomal recessive congenital ichthyosis; Collodion membrane; LI; Lamellar ichthyosis; SHCB; TGM1; TGase-1; autosomal recessive congenital ichthyosis; lamellar ichthyosis; self-healing collodion baby; transglutaminase-1; β-Barrel 2 domain