Učitavanje...
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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| Glavni autori: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2013
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| Teme: | |
| Online pristup: | 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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