A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene [17]

British Journal of Dermatology

Volumn 150, Issue 2, 2004, Pages 390-392

  Muramatsu, S ^a   Suga, Y ^a   Kon, J ^b   Matsuba, S ^a   Hashimoto, Y ^a   Ogawa, H ^a  

^a JUNTENDO UNIVERSITY   (Japan)

^b HIROSAKI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ADULT; ANAMNESIS; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ELECTRON MICROSCOPY; FAMILY HISTORY; GENE AMPLIFICATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPAN; LABORATORY TEST; LAMELLAR ICHTHYOSIS; LETTER; MALE; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN BIOPSY;

ADULT; DNA MUTATIONAL ANALYSIS; HUMANS; ICHTHYOSIS, LAMELLAR; JAPAN; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; TRANSGLUTAMINASES;

EID: 1542401990     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2003.05803.x     Document Type: Letter

References (10)

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