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A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria
Homozygous recessive mutations in the PRICKLE1 gene were originally reported in three consanguineous families with myoclonic epilepsy. Subsequently, several studies have identified neurological abnormalities in animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologues, in...
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| 發表在: | J Neurogenet |
|---|---|
| Main Authors: | , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4813514/ https://ncbi.nlm.nih.gov/pubmed/26727662 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/01677063.2015.1088847 |
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