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

Anil K. Agarwal, Chao Xing, George N. Demartino, Dario Mizrachi, Maria Dolores Hernandez, Ana Berta Sousa, Laura Martínez De Villarreal, Heloísa G. Dos Santos, Abhimanyu Garg

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