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TRAFFICKING-DEFICIENT MUTANT GABRG2 SUBUNIT AMOUNT MAY MODIFY EPILEPSY PHENOTYPE

OBJECTIVE: Genetic epilepsies and many other human genetic diseases display phenotypic heterogeneity, often for unknown reasons. Disease severity associated with nonsense mutations is dependent partially on mutation gene location and resulting efficiency of nonsense mediated mRNA decay (NMD) to elim...

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Main Authors: Kang, Jing-Qiong, Shen, Wangzhen, Macdonald, Robert L.
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3839255/
https://ncbi.nlm.nih.gov/pubmed/23720301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23947
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