Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

Journal of Dermatological Science

Volumn 57, Issue 2, 2010, Pages 90-94

  Kang, Tae Won ^a   Lee, Jeong Seon ^a   Kim, Song Ee ^a   Oh, Se Woong ^a   Kim, Soo Chan ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

Epidermolysis bullosa simplex; Keratin 14; Keratin 5; Mutation

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5;

ADOLESCENT; ADULT; ALPHA HELIX; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; KOREA; MALE; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; TRANSCRIPTION INITIATION; TRANSCRIPTION INITIATION SITE; TRANSCRIPTION TERMINATION;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CODON, NONSENSE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENE DELETION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KERATIN-14; KERATIN-5; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ANALYSIS; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 74749091365     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2009.12.002     Document Type: Article

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