Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro, Claire L; Cadiñanos, Juan; De Sandre-Giovannoli, Annachiara; Bernard, Rafaëlle; Courrier, Sébastien; Boccaccio, Irène; Boyer, Amandine; Kleijer, Wim J; Wagner, Anja; Giuliano, Fabienne; Beemer, Frits A; Freije, Jose M; Cau, Pierre; Hennekam, Raoul C M; López-Otín, Carlos; Badens, Catherine; Lévy, Nicolas

Navarro, Claire L; Cadiñanos, Juan; De Sandre-Giovannoli, Annachiara; Bernard, Rafaëlle; Courrier, Sébastien; Boccaccio, Irène; Boyer, Amandine; Kleijer, Wim J; Wagner, Anja; Giuliano, Fabienne; Beemer, Frits A; Freije, Jose M; Cau, Pierre; Hennekam, Raoul C M; López-Otín, Carlos; Badens, Catherine; Lévy, Nicolas.

Affiliation

Navarro CL; Inserm U491, Faculté de Médecine de Marseille, Marseille, France.

Hum Mol Genet ; 14(11): 1503-13, 2005 Jun 01.

Article in En | MEDLINE | ID: mdl-15843403

Subject(s)

Abnormalities, Multiple/genetics; Genes, Recessive; Lipoproteins/genetics; Membrane Proteins/genetics; Metalloproteases/genetics; Nuclear Proteins/metabolism; Protein Precursors/metabolism; Skin Diseases/genetics; Abnormalities, Multiple/metabolism; Base Sequence; Codon, Terminator; DNA Primers; Humans; Immunohistochemistry; Infant, Newborn; Lamin Type A; Metalloendopeptidases; Mutation; Polymerase Chain Reaction; Skin Diseases/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Protein Precursors / Skin Diseases / Abnormalities, Multiple / Nuclear Proteins / Metalloproteases / Genes, Recessive / Lipoproteins / Membrane Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Humans / Newborn Language: En Journal: Hum Mol Genet Year: 2005 Document type: Article

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