A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1. Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report on a 26-year-old female LP patient from a Turkish con...

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Rey, Linda K., Kohlhase, Jürgen, Möllenhoff, Katrin, Dekomien, Gabriele, Epplen, Jörg T., Hoffjan, Sabine
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2016
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862396/
https://ncbi.nlm.nih.gov/pubmed/27194970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000444615
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