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Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene
Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder and usually caused by a heterozygous GAG deletion (c.907–909) in the TOR1A gene (ΔE, p.Glu303del). The neuronal functions of torsin proteins and the pathogenesis of ΔE mutation are not clear. Previously, we have generated...
में बचाया:
| मुख्य लेखकों: | , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Elsevier
2022-07-01
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| श्रृंखला: | Stem Cell Research |
| ऑनलाइन पहुंच: | http://www.sciencedirect.com/science/article/pii/S1873506122001568 |
| टैग : |
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