Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Marx, Mariola; Diestel, Simone; Bozon, Muriel; Keglowich, Laura; Drouot, Nathalie; Bouché, Elisabeth; Frebourg, Thierry; Minz, Marie; Saugier-Veber, Pascale; Castellani, Valérie; Schäfer, Michael K E

Marx, Mariola; Diestel, Simone; Bozon, Muriel; Keglowich, Laura; Drouot, Nathalie; Bouché, Elisabeth; Frebourg, Thierry; Minz, Marie; Saugier-Veber, Pascale; Castellani, Valérie; Schäfer, Michael K E.

Affiliation

Marx M; Institute of Anatomy and Cell Biology, Center for Neurosciences, University of Freiburg, Freiburg, Germany.

Neurogenetics ; 13(1): 49-59, 2012 Feb.

Article in En | MEDLINE | ID: mdl-22222883

Subject(s)

Exons; Genetic Diseases, X-Linked/genetics; Genetic Variation; Hydrocephalus/genetics; Neural Cell Adhesion Molecule L1/genetics; Adult; Cell Line; Cerebral Aqueduct/abnormalities; Cerebral Aqueduct/metabolism; Cerebral Aqueduct/pathology; DNA Mutational Analysis; Female; Genetic Diseases, X-Linked/metabolism; Genetic Diseases, X-Linked/pathology; Humans; Hydrocephalus/metabolism; Hydrocephalus/pathology; Male; Middle Aged; Mutation; Neurons/cytology; Neurons/physiology; Pedigree

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Exons / Genetic Diseases, X-Linked / Neural Cell Adhesion Molecule L1 / Hydrocephalus Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2012 Type: Article Affiliation country: Germany

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