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Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA
Mutations in the components of the minor spliceosome underlie several human diseases. A subset of patients with isolated growth hormone deficiency (IGHD) harbors mutations in the RNPC3 gene, which encodes the minor spliceosome-specific U11/U12-65K protein. Although a previous study showed that IGHD...
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| 發表在: | RNA |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Cold Spring Harbor Laboratory Press
2018
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5824358/ https://ncbi.nlm.nih.gov/pubmed/29255062 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1261/rna.062844.117 |
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