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Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2012, Volume 259, Issue 5, pp. 838 - 850
Journal Article
Journal Article
Journal Article
Journal Article
Muscle & Nerve, ISSN 0148-639X, 11/2017, Volume 56, Issue 5, pp. 943 - 953
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2015, Volume 25, Issue 6, pp. 488 - 492
Journal Article
Neurology, ISSN 0028-3878, 09/2016, Volume 87, Issue 13, pp. 1417 - 1419
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2011, Volume 19, Issue 6, pp. 647 - 654
Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as... 
prelamin A | mandibuloacral dysplasia | secondary laminopathies | congenital myopathy | ZMPSTE24 | LMNA MUTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCULAR-DYSTROPHY | PHENOTYPE | RESTRICTIVE DERMOPATHY | PROGERIA-SYNDROME | GENE | MOUSE MODEL | GENETICS & HEREDITY | PRELAMIN-A | LAMIN A/C | ZMPSTE24-DEFICIENT MICE | Metalloendopeptidases - genetics | Myopathies, Structural, Congenital - physiopathology | Humans | Molecular Sequence Data | Metalloendopeptidases - metabolism | Myopathies, Structural, Congenital - genetics | Acro-Osteolysis - genetics | Mutation, Missense | Myopathies, Structural, Congenital - complications | Muscular Dystrophies - genetics | Progeria - physiopathology | Mandible - physiopathology | Fibroblasts | Adult | Female | Lipodystrophy - physiopathology | Membrane Proteins - metabolism | Cell Culture Techniques | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Mandible - abnormalities | Amino Acid Sequence | Protein Precursors - genetics | Membrane Proteins - genetics | Nuclear Proteins - metabolism | Lamin Type A - metabolism | Muscular Dystrophies - complications | Progeria - genetics | Abnormalities, Multiple - physiopathology | Acro-Osteolysis - complications | Lipodystrophy - complications | Protein Precursors - metabolism | Lipodystrophy - genetics | Homozygote | Phenotype | Acro-Osteolysis - physiopathology | Lamin Type A - genetics | Heterozygote | Mutation | Progeria - complications | Muscular Dystrophies - physiopathology
Journal Article