CASE REPORT : Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene

논문상세정보
' CASE REPORT : Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • epidermolysisbullosasimplex
  • keratin5
  • weber-cockayne
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
7 0

0.0%

' CASE REPORT : Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene' 의 참고문헌

  • The molecular genetics of the genodermatoses: progress to date and future directions
    Irvine AD Br J Dermatol 148 : 1 ~ 13 [2003]
  • Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa
    Fine JD J Am Acad Dermatol 42 : 1051 ~ 1066 [2000]
  • New consensus nomenclature for mammalian keratins
    Schweizer J J Cell Biol 174 : 169 ~ 174 [2006]
  • Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly
    Steinert PM J Mol Biol 230 : 436 ~ 452 [1993]
  • Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes
    Cummins RE J Invest Dermatol 117 : 1103 ~ 1107 [2001]
  • Fitzpatrick's dermatology in general medicine
    Wolff K McGrawHill : 505 ~ 516 [2008]
  • Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry
    Fuchs EV Johns Hopkins University Press : 280 ~ 299 [1999]
  • Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases
    Yasukawa K Br J Dermatol 155 : 313 ~ 317 [2006]