title: Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.
authors: Juan
authors: J
authors: Bai
authors: Ying-guo
authors: YG
authors: Ding
authors: Yin-hua
authors: YH
authors: Wu
authors: Jian-jun
authors: JJ
authors: Qiao
authors: Department of Dermatology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hanghou, Zhejiang Province, People's Republic of China.
authors: Hong
authors: H
authors: Fang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1