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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
PAGEPress Publications, Pavia, Italy
2021
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| Materias: | |
| 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 |