Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: ABHD5[original query] |
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Clinical and genetic analysis of lipid storage myopathies. Muscle & nerve 2009 Mar 39 (3): 333-42. Ohkuma Aya, Noguchi Satoru, Sugie Hideo, Malicdan May Christine V, Fukuda Tokiko, Shimazu Kunio, López Luis Carlos, Hirano Michio, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichi |
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. Clinical genetics 2010 Dec 78 (6): 565-9. Lan M-Y, Fu M-H, Liu Y-F, Huang C-C, Chang Y-Y, Liu J-S, Peng C-H, Chen S |
A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene. Iranian biomedical journal 2018 2 22 (6): 415-9. Nakhaei Shahrbanoo, Heidary Hamed, Rahimian Aliasghar, Vafadar Mahdi, Rohani Farzaneh, Bahoosh Gholam Reza, Amirkashani Davo |
ABHD5 stimulates PNPLA1-mediated ?-O-acylceramide biosynthesis essential for a functional skin permeability barrier. Journal of lipid research 2018 10 59 (12): 2360-2367. Kien Benedikt, Grond Susanne, Haemmerle Guenter, Lass Achim, Eichmann Thomas O, Radner Franz P |
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