Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
- 期刊名称Journal of Medical Genetics
- 作者Otto, E. A.; Ramaswami, G.; Janssen, S.; Chaki, M.; Allen, S. J.; Zhou, W.; Airik, R.; Hurd, T. W.; Ghosh, A. K.; Wolf, M. T.; Hoppe, B.; Neuhaus, T. J.; Bockenhauer, D.; Milford, D. V.; Soliman, N. A.; Antignac, C.; Saunier, S.; Johnson, C. A.; Hildebrandt, F.
- 卷第48卷
- 期第2期
- 印刷ISSN0022-2593
- 电子ISSN1468-6244
- 文件大小1072.10KB
- 发表时间2011-02-01
- DOI10.1136/jmg.2010.082552
- 页码105-116
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