Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene

International Journal of Dermatology

Volumn 48, Issue 11, 2009, Pages 1195-1197

  Rodríguez Pazos, Laura ^a   Ginarte, Manuel ^a   Vega Gliemmo, Ana ^a   Toribio, Jaime ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ALOPECIA; ANAMNESIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; DISEASE SEVERITY; DNA SEQUENCE; ELECTRON MICROSCOPY; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INFANT; LAMELLAR ICHTHYOSIS; MALE; PATHOGENESIS; PHYSICAL EXAMINATION;

BIOPSY; HOMOZYGOTE; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT; MALE; MICROSCOPY, ELECTRON; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; SKIN; TRANSGLUTAMINASES;

EID: 70449441323     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2009.04223.x     Document Type: Article

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