Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, charac...

Descripción completa

Detalles Bibliográficos
Autores principales: Tavian, Daniela, Durdu, Murat, Angelini, Corrado, Torre, Enza, Missaglia, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8274219/
https://www.ncbi.nlm.nih.gov/pubmed/33985321
http://dx.doi.org/10.4081/ejtm.2021.9796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8274219/
https://www.ncbi.nlm.nih.gov/pubmed/33985321
http://dx.doi.org/10.4081/ejtm.2021.9796

Ejemplares similares