proteasome endopeptidase complex / genetics*

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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

Liu Y;Ramot Y;Torrelo A;Paller AS;Si N;Babay S;Kim PW;Sheikh A;Lee CC;Chen Y;Vera A;Zhang X;Goldbach...

2012 Arthritis and rheumatism 302 views

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National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine research support female male N.I.H. Extramural adolescent codon Child preschool Genotype mutation