A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Subjects and Informed Consent
2.2. Clinical Examination and Sample Collection
2.3. DNA Isolation and Whole Exome Sequencing
2.4. Bioinformatics
2.5. Sanger Sequencing
2.6. Cloning of the Wild-Type and Mutant SP6 Expression Vectors
2.7. Western Blot and RT-PCR of the Wild-Type and Mutant SP6
3. Results
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Sample | Total Reads | Mapping Rate (%) | Median Target Coverage | Coverage of Target Region (%) | Fraction of Target Covered with at Least | |
---|---|---|---|---|---|---|
20X | 10X | |||||
I:1 | 69,365,294 | 99.6 | 95 | 96.5 | 93.5 | 95.5 |
I:2 | 68,921,817 | 99.6 | 87 | 96.3 | 93.0 | 95.3 |
II:2 | 59,890,807 | 99.7 | 82 | 96.5 | 92.8 | 95.4 |
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Kim, Y.J.; Lee, Y.; Zhang, H.; Song, J.-S.; Hu, J.C.-C.; Simmer, J.P.; Kim, J.-W. A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta. Genes 2021, 12, 346. https://doi.org/10.3390/genes12030346
Kim YJ, Lee Y, Zhang H, Song J-S, Hu JC-C, Simmer JP, Kim J-W. A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta. Genes. 2021; 12(3):346. https://doi.org/10.3390/genes12030346
Chicago/Turabian StyleKim, Youn Jung, Yejin Lee, Hong Zhang, Ji-Soo Song, Jan C.-C. Hu, James P. Simmer, and Jung-Wook Kim. 2021. "A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta" Genes 12, no. 3: 346. https://doi.org/10.3390/genes12030346
APA StyleKim, Y. J., Lee, Y., Zhang, H., Song, J. -S., Hu, J. C. -C., Simmer, J. P., & Kim, J. -W. (2021). A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta. Genes, 12(3), 346. https://doi.org/10.3390/genes12030346