NTNG1 Mutations are a Rare Cause of Rett Syndrome

A translocation that disrupted the Netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). The netrin G1 protein (NTNG1) has an important role in the developing central nervous system, particularly in axonal guidance, signalling and NMDA recep...

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Main Authors: Archer, Hayler L., Evans, Julie C., Millar, David S., Thompson, Peter W., Kerr, Alison M., Leonard, Helen, Christodoulou, John, Ravine, David, Lazarou, Lazarus, Grove, Lucy, Verity, Christopher, Whatley, Sharon D., Pilz, Daniela T., Sampson, Julian R., Clarke, Angus J.
Format: Artigo
Jezik:Inglês
Izdano: 2006
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2577736/
https://ncbi.nlm.nih.gov/pubmed/16502428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31133
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