Epidermolysis bullosa: The expanding mutation database

Journal of Investigative Dermatology

Volumn 123, Issue 4, 2004, Pages

  Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; BULLOUS PEMPHIGOID ANTIGEN; COLLAGEN; COLLAGEN 17; DNA; KALININ; LAMININ; MESSENGER RNA; PLECTIN; POLYPEPTIDE; UNCLASSIFIED DRUG;

BASEMENT MEMBRANE; BPAG2 GENE; BULLOUS SKIN DISEASE; CLINICAL ARTICLE; COL17A1 GENE; DISEASE CLASSIFICATION; EPIDERMOLYSIS BULLOSA; GENE; GENE MUTATION; GENETIC DATABASE; GENODERMATOSIS; HUMAN; HUMAN GENOME; ITGA6 GENE; ITGB4 GENE; KERATINOCYTE; KRT14 GENE; KRT5 GENE; LAMA3 GENE; LAMB3 GENE; LAMC2 GENE; NOTE; PHENOTYPE; PLEC1 GENE; PRIORITY JOURNAL;

EID: 4644245680     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23333.x     Document Type: Note

References (10)

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2. Fine J-D, Eady RAJ, Bauer EA, 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 42:1051-1066, 2000
3. Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, et al: A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations. J Invest Dermatol 118:87-93, 2002
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7. Posteraro P, De Luca N, Meneguzzi G, et al: Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. J Invest Dermatol 123:639-648, 2004
8. Pulkkinen L, Uitto J: Hemidesmosomal variants of epidermolysis bullosa. Mutations in the α6β4 integrin and the 180-kD bullous pemphigoid antigen/ type XVII collagen genes. Exp Derm 7:46-64, 1998
9. Uitto J, Pfendner E, Jackson LG: Probing the fetal genome: Progress towards non-invasive prenatal diagnosis. Trends Mol Med 9:339-343, 2003
10. Uitto J, Pulkkinen L, Ringpfeil F: Progress in molecular genetics of heritable skin diseases: The paradigms of EB and PXE. J Invest Dermatol Symp Proc 7:6-16, 2002