A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report

Lipoid proteinosis is a rare autosomal recessive genodermatosis that is caused by loss-of-function mutations in the extracellular matrix protein 1 gene. This study identifies a novel nonsense mutation in exon 9 of the extracellular matrix protein 1 gene associated with lipoid proteinosis, contributi...

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Detalles Bibliográficos
Autores principales: Ghazawi, Feras M, Proulx, Etienne Saint-Cyr, Jafarian, Fatemeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
JCMS Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537054/
https://www.ncbi.nlm.nih.gov/pubmed/31205714
http://dx.doi.org/10.1177/2050313X19850359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537054/
https://www.ncbi.nlm.nih.gov/pubmed/31205714
http://dx.doi.org/10.1177/2050313X19850359

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