Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-43488-w.pdf
Reference32 articles.
1. Ward, C. J. et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat. Genet. 30, 259–269 (2002).
2. Onuchic, L. F. et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am. J. Hum. Genet. 70, 1305–1317 (2002).
3. Hildebrandt, F., Benzing, T. & Katsanis, N. Ciliopathies. N. Engl. J. Med. 364, 1533–1543 (2011).
4. Lu, H. et al. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat. Genet., https://doi.org/10.1038/ng.3871 (2017).
5. Harris, P. C. & Torres, V. E. Polycystic kidney disease. Annu. Rev. Med. 60, 321–337 (2009).
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