SnapShot: Genetics of Autism
نویسندگان
چکیده
9q34.13 (TSC1) Hamartin, a growth inhibitory protein that negatively regulates the mTOR pathway Tuberous Sclerosis type I. (Liver and neural tube defects. Die by E12. Abnormal kidney and liver growth in heterozygotes. Variable brain structure, function and behavior abnormalities in conditional mutants. Die at various postnatal ages. Neuronspecific loss causes abnormal spine morphology and cortical excitability. Loss of LTD.)
منابع مشابه
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عنوان ژورنال:
- Neuron
دوره 72 شماره
صفحات -
تاریخ انتشار 2011