Llwytho...
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy
Intellectual disability is genetically heterogeneous, and it is likely that many of the responsible genes have not yet been identified. We describe three siblings with isolated, severe developmental encephalopathy. After extensive uninformative genetic and metabolic testing, whole exome sequencing i...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | J Inherit Metab Dis |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2015
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4919120/ https://ncbi.nlm.nih.gov/pubmed/25758935 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9824-x |
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