Christoph M Lanschuetzer
Affiliation: Landeskliniken Salzburg
- Pathogenic mechanisms in epidermolysis bullosa naeviChristoph M Lanschuetzer
Department of Dermatology, General Hospital Salzburg, Austria
Acta Derm Venereol 83:332-7. 2003....
- Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedemaMartin Laimer
Division of Molecular Dermatology, Department of Dermatology, Paracelsus Private Medical University Salzburg, Salzburg, Austria
Genet Med 8:249-54. 2006..e., knock-out models) is sparse. This report intends to correlate the first reported alteration within the 3'UTR of the C1 inhibitor (C1-INH) gene with clinical presentation of hereditary angioedema (HAE)...
- Herlitz junctional epidermolysis bullosaMartin Laimer
Division of Molecular Dermatology, Department of Dermatology, General Hospital Salzburg, Paracelsus Medical University Salzburg, Muellner Hauptstrasse 48, A 5020 Salzburg, Austria
Dermatol Clin 28:55-60. 2010..Morbidity and mortality are high, necessitating optimized protocols for early (including prenatal) diagnosis and palliative care. Gene therapy remains the most promising perspective...
- Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decayBirgit Buchroithner
Department of Dermatology, Paracelsus Private Medical University of Salzburg, Salzburg, Austria
Lab Invest 84:1279-88. 2004..These results describe an exception to the proposed rules of pre-mRNA splicing and RNA degradation...