A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype

British Journal of Dermatology

Volumn 148, Issue 1, 2003, Pages 149-153

  Akiyama, Masashi ^b   Takizawa, Y ^a   Suzuki, Y ^a   Shimizu, H ^b  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

Cornified cell envelope; Genodermatosis; Keratinization; Transglutaminase 1

Indexed keywords

DNA; ENZYME ANTIBODY; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN SUBUNIT;

ADULT; ALLELE; ANTIBODY LABELING; ARTICLE; BODY SURFACE; CASE REPORT; CELL MEMBRANE; CLINICAL FEATURE; DELETION MUTANT; ELECTRON MICROSCOPY; ENZYME ACTIVITY; EPIDERMIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOFLUORESCENCE TEST; INTRON; KERATINIZATION; KERATINOCYTE; LABORATORY TEST; LAMELLAR ICHTHYOSIS; MOLECULAR MODEL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; ICHTHYOSIS, LAMELLAR; MUTATION; PHENOTYPE; TRANSGLUTAMINASES;

EID: 0037243311     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2003.05041.x     Document Type: Article

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