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  • Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.

Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.

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2015 Jan Others Fist_Author_Year_PM

Full Author : ['Kozusko, K', 'Tsang, Vhm', 'Bottomley, W', 'Cho, Y H', 'Gandotra, S', 'Mimmack, M L', 'Lim, K', 'Isaac, I', 'Patel, Satish', 'Saudek, V', "O'Rahilly, S", 'Srinivasan, S', 'Greenfield, J R', 'Barroso, I', 'Campbell, L V', 'Savage, D B']
Journal Title : Diabetes
Chapter : Section3
Journal Year : 2015
Cited by : Not Available

Perilipin 1 is a lipid droplet coat protein predominantly expressed in adipocytes, where it inhibits basal and facilitates stimulated lipolysis. Loss-of-function mutations in the PLIN1 gene were recently reported in patients with a novel subtype of famili.....

Keywords : ["novel frameshift mutation identify", "familial partial lipodystrophy", "molecular characterization", "patient", "clinical"]