Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy.
Levy
Nicolas
N
López-Otín
Carlos
C
Hennekam
Raoul C M
RC
D006801:Humans; D034904:Lamin Type A; D034882:Lamins / Q000235:genetics*; D008074:Lipoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases; D045726:Metalloproteases / Q000235:genetics*; D009154:Mutation; D012868:Skin Abnormalities / Q000235:genetics*
C494847:LMNA protein, human; D034904:Lamin Type A; D034882:Lamins; D008074:Lipoproteins; D008565:Membrane Proteins; D045726:Metalloproteases; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human