PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

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Published in Am J Hum Genet on December 10, 2010

Authors

Anil K Agarwal1, Chao Xing, George N DeMartino, Dario Mizrachi, Maria Dolores Hernandez, Ana Berta Sousa, Laura Martínez de Villarreal, Heloísa G dos Santos, Abhimanyu Garg

Author Affiliations

1: Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, 75390, USA.

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