Mutation Analysis of 18 Nephronophthisis Associated Ciliopathy Disease Genes using a DNA Pooling and Next Generation Sequencing Strategy
- Citation:
- Otto, E. A., G. Ramaswami, S. Janssen, M. Chaki, S. J. Allen, W. Zhou, R. Airik, T. W. Hurd, A. K. Ghosh, M. T. Wolf, et al., "Mutation Analysis of 18 Nephronophthisis Associated Ciliopathy Disease Genes using a DNA Pooling and Next Generation Sequencing Strategy", Journal of Medical Genetics, 2011.
Abstract:
Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS),
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