Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, the genetic cause for most families affected by dominantly inherited SMA is unknown....

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Hlavní autoři: Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675237/
https://ncbi.nlm.nih.gov/pubmed/23664116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.011
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