A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: A family study with a genetic twist

International Journal of Molecular Medicine

Volumn 20, Issue 1, 2007, Pages 75-78

  Kowalewski, Cezary ^a   Hamada, Takahiro ^b   Wozniak, Katarzyna ^a   Kawano, Yuko ^b   Szczecinska, Weronika ^a   Yasumoto, Shinichiro ^b   Schwartz, Robert A ^c   Hashimoto, Takashi ^b  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

Electron microscopy; Epidermolysis bullosa; Immunofluorescence mapping; Keratin 5; Mutational analysis

Indexed keywords

ASPARAGINE; CYTOKERATIN 5;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BIOPSY; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; FATHER; FEMALE; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; ULTRASTRUCTURE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ASPARAGINE; BIOPSY; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; EXONS; FATHERS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; KERATIN-5; MALE; PEDIGREE;

EID: 34548098462     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.20.1.75     Document Type: Article

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