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A Novel Strategy for Therapeutic Intervention for the Genetic Disease: Preventing Proteolytic Cleavage using Small Chemical Compound
Haploinsufficiency is a state of genetic disease, which is caused by hemizygous mutations of functional alleles. Lissencephaly is a typical example of haploinsufficiency disorders characterized by a smooth cerebral surface, thick cortex and dilated lateral ventricules associated with mental retardat...
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| Yayımlandı: | Int J Biochem Cell Biol |
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| Asıl Yazarlar: | , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2010
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4516280/ https://ncbi.nlm.nih.gov/pubmed/20541031 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.biocel.2010.05.017 |
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