Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression

European Journal of Dermatology

Volumn 19, Issue 2, 2009, Pages 114-118

  Codispori, Andrea ^a   Colombo, Enrico ^a,b   Zocchi, Loredana ^a   Serra, Valeria ^a   Pertusi, Cinevra ^b   Leigheb, Giorgio ^b   Tilberio, Rossana ^b   Bornacina, Guido ^b   Zuccoli, Riceardo ^b   Ramponi, Antonio ^b   Campione, Elena ^a   Melino, Gerry ^a   Terrinoni, Alessandro ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

Epidermolytic palmoplanar keratoderma; Keratin 9; Keratin diseases; Knuckle pads; Rl63W mutation

Indexed keywords

CYTOKERATIN 9;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; FAMILY; GENE MUTATION; HUMAN; HUMAN TISSUE; KERATOSIS; KNUCKLE PAD KERATOSIS; METACARPOPHALANGEAL JOINT; PHENOTYPE; PROTEIN EXPRESSION; PROXIMAL INTERPHALANGEAL JOINT; WILD TYPE; CONGENITAL MALFORMATION; DNA SEQUENCE; FEMALE; FINGER; GENETICS; ITALY; MALE; MISSENSE MUTATION; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

FEMALE; FINGERS; HUMANS; ITALY; KERATIN-9; KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 65449122406     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2008.0575     Document Type: Article

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