Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

Junctional epidermolysis bullosa (JEB) is a clinically and biologically heterogeneous genodermatosis, characterized by trauma-induced blistering and healing without scarring but sometimes with skin atrophy. We investigated three unrelated patients with different JEB phenotypes. Patients 1 and 2 had...

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Hlavní autoři: Schumann, H, Hammami-Hauasli, N, Pulkkinen, L, Mauviel, A, Küster, W, Lüthi, U, Owaribe, K, Uitto, J, Bruckner-Tuderman, L
Médium: Artigo
Jazyk:Inglês
Vydáno: 1997
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716115/
https://ncbi.nlm.nih.gov/pubmed/9199555
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