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A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations
A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations
2013
Amelia McDermott
Adriana A. Jesus
Yin Liu
Peter W. Kim
Jennifer Jacks
Gina A. Montealegre Sanchez
Yongqing Chen
Aarthi Kannan
Alicia Schnebelen
Peter D. Emanuel
Sara C. Shalin
Kim M. Hiatt
Raphaela Goldbach-Mansky
Ling Gao
Keywords:
Heterozygote advantage
Pathology
Compound heterozygosity
Lipodystrophy
Proteasome
Proteasome endopeptidase complex
Internal medicine
Diabetes mellitus
Medicine
Endocrinology
Young adult
Correction
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