Zobrazeno 1 - 3
of 3
pro vyhledávání: '"C M, Lanschuetzer"'
Autor:
C M, Lanschuetzer, A, Klausegger, G, Pohla-Gubo, R, Hametner, G, Richard, J, Uitto, H, Hintner, J W, Bauer
Publikováno v:
Human genetics. 115(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4310b31891109720ac466f2efd2728b
https://pubmed.ncbi.nlm.nih.gov/15300974
https://pubmed.ncbi.nlm.nih.gov/15300974
Autor:
C M, Lanschuetzer, W H, Muss, M, Emberger, G, Pohla-Gubo, A, Klausegger, J W, Bauer, H, Hintner
Publikováno v:
Journal of cutaneous pathology. 30(9)
Kindler's syndrome is a rare genodermatosis mainly characterized by the onset of skin blistering in early childhood, web formation of fingers and toes, photosensitivity, and progressive poikiloderma. There is still debate whether this disease represe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e7894cf112a3e2f22304c91faa78ea2
https://pubmed.ncbi.nlm.nih.gov/14507403
https://pubmed.ncbi.nlm.nih.gov/14507403
Autor:
C M, Lanschuetzer, A, Klausegger, G, Pohla-Gubo, R, Hametner, G, Richard, J, Uitto, H, Hintner, J W, Bauer
Publikováno v:
Clinical and experimental dermatology. 28(1)
We report the sixth case of a human keratin 14 'knockout' mutation resulting in recessive epidermolysis bullosa simplex (EBS). A novel, homozygous nonsense mutation resulting from a deletion/insertion mutation (744delC/insAG) leads to a premature ter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4bd1c5fa195e1f19f6e56ab30fc44f92
https://pubmed.ncbi.nlm.nih.gov/12558637
https://pubmed.ncbi.nlm.nih.gov/12558637