Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot–Marie–Tooth neuropathy subtype in a family excluded for mutations in the common Charcot–Marie–Tooth genes, we used array-based sequence capture to simultaneously analyse the disease-linked protein coding e...

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Autors principals: Auer-Grumbach, Michaela, Weger, Martin, Fink-Puches, Regina, Papić, Lea, Fröhlich, Eleonore, Auer-Grumbach, Piet, El Shabrawi-Caelen, Laila, Schabhüttl, Maria, Windpassinger, Christian, Senderek, Jan, Budka, Herbert, Trajanoski, Slave, Janecke, Andreas R., Haas, Anton, Metze, Dieter, Pieber, Thomas R., Guelly, Christian
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3272386/
https://ncbi.nlm.nih.gov/pubmed/21576112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awr076
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