Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

We report about the partial de novo loss of GLRB and GRIA2 in an individual with intellectual disability (ID). No additional mutations were found in either gene. GLRB itself does not seem to be a good candidate as it causes autosomal recessive hyperekplexia and no symptoms were found in the patient....

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Main Authors: Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2013
主題:
Short Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522202/
https://ncbi.nlm.nih.gov/pubmed/22669415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.97
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