ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

Gianfrancesco, F; Esposito, T; Penco, S; Maglione, V; Liquori, C L; Patrosso, M C; Zuffardi, O; Ciccodicola, A; Marchuk, D A; Squitieri, F

Gianfrancesco, F; Esposito, T; Penco, S; Maglione, V; Liquori, C L; Patrosso, M C; Zuffardi, O; Ciccodicola, A; Marchuk, D A; Squitieri, F.

Affiliation

Gianfrancesco F; Institute of Genetics and Biophysics, Adriano Buzzati Traverso, Italian National Research Council, Via Pietro Castellino, 111, 80131 Naples, Italy. gianfrancesco@igb.cnr.it

Neuroscience ; 155(2): 345-9, 2008 Aug 13.

Article in En | MEDLINE | ID: mdl-18632209

Subject(s)

Chromosomes, Human, Pair 3; Hemangioma, Cavernous, Central Nervous System/genetics; Membrane Proteins/genetics; Membrane Proteins/metabolism; Signal Transduction/physiology; Translocation, Genetic; Adult; Cell Line; Chromosome Breakage; Databases, Protein; Female; Hemangioma, Cavernous, Central Nervous System/metabolism; Hemangioma, Cavernous, Central Nervous System/pathology; Humans; Leukocytes, Mononuclear/cytology; Leukocytes, Mononuclear/physiology; Magnetic Resonance Imaging; Phenotype; Primary Ovarian Insufficiency/complications; Primary Ovarian Insufficiency/genetics; RNA, Messenger/metabolism; X Chromosome Inactivation/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Chromosomes, Human, Pair 3 / Signal Transduction / Hemangioma, Cavernous, Central Nervous System / Membrane Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Neuroscience Year: 2008 Type: Article Affiliation country: Italy

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