Zobrazeno 1 - 2
of 2
pro vyhledávání: '"V. K. Yenamandra"'
Autor:
M. F. Jonkman, P. C. van den Akker, V. K. Yenamandra, Anna M.G. Pasmooij, Marieke C. Bolling, R. Baardman, José C. Duipmans
Publikováno v:
Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, 1-12. Wiley
STARTPAGE=1;ENDPAGE=12;ISSN=0926-9959;TITLE=Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, 1-12. Wiley
STARTPAGE=1;ENDPAGE=12;ISSN=0926-9959;TITLE=Journal of the European Academy of Dermatology and Venereology
Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2acfc78f40bb05d79d0d079ccf990948
https://doi.org/10.1111/jdv.17012
https://doi.org/10.1111/jdv.17012
Autor:
Richard J. Sinke, Gilles F. H. Diercks, Maria C. Bolling, M.P. van den Berg, Sabrina Z. Jan, Anna M.G. Pasmooij, P. C. van den Akker, M. F. Jonkman, V. K. Yenamandra, Mathilde C.S.C. Vermeer, Henny H. Lemmink, P van der Meer
Publikováno v:
The British journal of dermatology, 179(5), 1181-1183. Wiley
Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in the pathogenesis of epidermolysis bullosa simplex (EBS). So far, 26 patients from different ethnicities have been reported and all of them harboured a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5030f9088d52efe291080d45035ef5f2
https://research.rug.nl/en/publications/8d647304-0ee0-4e06-bc8b-d0c5cba9026a
https://research.rug.nl/en/publications/8d647304-0ee0-4e06-bc8b-d0c5cba9026a