title: A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.
authors.affiliation: College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA.
authors.forename: Amelia
authors.initials: A
authors.lastname: McDermott
authors.forename: Adriana Almeida
authors.initials: AA
authors.lastname: Jesus
authors.forename: Yin
authors.initials: Y
authors.lastname: Liu
authors.forename: Peter
authors.initials: P
authors.lastname: Kim
authors.forename: Jennifer
authors.initials: J
authors.lastname: Jacks
authors.forename: Gina A
authors.initials: GA
authors.lastname: Montealegre Sanchez
authors.forename: Yongqing
authors.initials: Y
authors.lastname: Chen
authors.forename: Aarthi
authors.initials: A
authors.lastname: Kannan
authors.forename: Alicia
authors.initials: A
authors.lastname: Schnebelen
authors.forename: Peter D
authors.initials: PD
authors.lastname: Emanuel
authors.forename: Sara
authors.initials: S
authors.lastname: Shalin
authors.forename: Kim
authors.initials: K
authors.lastname: Hiatt
authors.forename: Raphaela
authors.initials: R
authors.lastname: Goldbach-Mansky
authors.forename: Ling
authors.initials: L
authors.lastname: Gao
mesh_terms: D006579:Heterozygote; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D020125:Mutation, Missense; D046988:Proteasome Endopeptidase Complex / Q000235:genetics*; D012867:Skin / Q000473:pathology; D013577:Syndrome; D055815:Young Adult
chemical_list: C077436:LMP7 protein; D046988:Proteasome Endopeptidase Complex