Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep33652.pdf
Reference40 articles.
1. Kanoun, H. et al. A double mutation in AGXT gene in families with primary hyperoxaluria type 1. Gene. 531, 451–456 (2013).
2. Hoppe, B., Beck, B. B. & Milliner, D. S. The primary hyperoxalurias. Kidney Int. 75, 1264–1271 (2009).
3. Oppici, E. et al. Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine: glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I. Mol Genet Metab. 105, 132–140 (2012).
4. Cregeen, D. P., Williams, E. L., Hulton, S. & Rumsby, G. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat. 22, 497–506 (2003).
5. Hopp, K. et al. Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol. 26, 2559–2570 (2015).
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