A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits [17]

British Journal of Dermatology

Volumn 152, Issue 5, 2005, Pages 1087-1089

  Muramatsu, S ^a   Suga, Yasushi ^a   Mizuno, Y ^a   Hasegawa, T ^a   Tsuchihashi, H ^a   Matsuba, S ^a   Kohroh, K ^a   Yaguchi, H ^a   Ogawa, H ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 1; PROLINE; RETINOID; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA ISOLATION; GENE; GENE AMPLIFICATION; GENE MUTATION; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; HYPERKERATOSIS; JOINT CONTRACTURE; KERATOSIS PALMOPLANTARIS; KRT1 GENE; LETTER; MALE; PRIORITY JOURNAL; SKIN BIOPSY;

ADULT; BASE SEQUENCE; CONTRACTURE; FINGERS; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; KERATINS; MALE; MUTATION; PROLINE; THREONINE;

EID: 18944389500     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06584.x     Document Type: Letter

References (10)

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