Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference14 articles.
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2. Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5;Badeloe;Br. J. Dermatol.,2008
3. Clinical and genetic characterization of Chanarin-Dorfman syndrome;Bruno;Biochem. Biophys. Res. Commun.,2008
4. Neutral lipid storage disease:a new disorder of lipid metabolism;Chanarin;Br. Med. J.,1975
5. Ichthyosiform dermatosis with systemic lipidosis;Dorfman;Arch. Dermatol.,1974
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3. ABHD5—A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions;Metabolites;2022-10-24
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5. CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis;Advances in Experimental Medicine and Biology;2020
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