L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma

British Journal of Dermatology

Volumn 155, Issue 3, 2006, Pages 624-626

  Kon, A ^a   Ito, N ^a   Kudo, Y ^a   Nomura, K ^b   Yoneda, K ^c   Hanada, K ^a   Hashimoto, I ^d   Takagaki, K ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

^c KAGAWA UNIVERSITY   (Japan)

^d AOMORI ROSAI HOSPITAL   (Japan)

Author keywords

Epidermolytic palmoplantar; Genodermatosis; Keratin 9; Keratinocyte; Keratoderma; Missense mutation

Indexed keywords

KERATIN; KERATIN 9; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; EPIDERMOLYSIS; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; FEMALE; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; JAPAN; KERATOSIS PALMOPLANTARIS; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF;

ADULT; BASE SEQUENCE; HUMANS; JAPAN; KERATIN-9; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 33747045759     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07358.x     Document Type: Article

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