Llwytho...
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype
Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients. We characterized a de novo t(10;13) balanced translocation...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Nature Publishing Group
2010
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3002864/ https://ncbi.nlm.nih.gov/pubmed/20683487 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.126 |
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