From gene to disease; epidermolysis bullosa due to mutations in proteins in or around the hemidesmosome;Van gen naar ziekte; epidermolysis bullosa door mutaties in eiwitten in of rond het hemidesmosoom

Nederlands Tijdschrift voor Geneeskunde

Volumn 147, Issue 23, 2003, Pages 1108-1113

  Jonkman, M F ^a   Rulo, H F C ^a   Duipmans, J C ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN;

ANAMNESIS; ARTICLE; BASEMENT MEMBRANE; BINDING SITE; CELL ADHESION; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA DETERMINATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; HEMIDESMOSOME; HUMAN; IMMUNOFLUORESCENCE; INHERITANCE; PREVALENCE;

BASEMENT MEMBRANE; DESMOSOMES; EPIDERMIS; EPIDERMOLYSIS BULLOSA; HUMANS; MICROSCOPY, ELECTRON; MUTATION; PROTEINS; SKIN;

EID: 0038306853     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, et al. Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000;42:1051-66.
2. Rijssen A van, Molier L, Vrijlandt AJW, Jonkman MF. Bulleuze dermatitis artefacta. Ned Tijdschr Geneeskd 2000;144:1465-9.
3. Fine JD, Bauer EA, McGuire J, Moshell A. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national Epidermolysis Bullosa registry. Baltimore: The Johns Hopkins University Press; 1999.
4. Jonkman MF. Epidermolysis bullosa. In: Oranje AP, Waard-van der Spek FB de, redacteuren. Handboek kinderdermatologie. Utrecht: De Tijdstroom; 1996. p. 236-50.
5. Jonkman MF. Hereditary skin diseases of hemidesmosomes. J Dermatol Sci 1999;20:103-21.