Human ZMPSTE24 disease mutations: Residual proteolytic activity correlates with disease severity

Human Molecular Genetics

Volumn 21, Issue 18, 2012, Pages 4084-4093

  Barrowman, Jemima ^a   Wiley, Patricia A ^b   Hudon Miller, Sarah E ^b   Hrycyna, Christine A ^b   Michaelis, Susan ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b PURDUE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; NUCLEAR PROTEIN; PROTEIN ZMPSTE24; UNCLASSIFIED DRUG;

ARTICLE; DISEASE SEVERITY; GENE ACTIVITY; GENE MUTATION; HUMAN; JAW MALFORMATION; MANDIBULOACRAL DYSPLASIA; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROGERIA; PROTEIN DEGRADATION; SKIN DISEASE; YEAST;

ALLELES; AMINO ACID SEQUENCE; CONTRACTURE; CRANIOFACIAL ABNORMALITIES; LIPODYSTROPHY; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MODELS, MOLECULAR; MUTATION; PROGERIA; PROTEOLYSIS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SKIN ABNORMALITIES;

EID: 84865768730     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds233     Document Type: Article

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