Mutations in SLC26A1 Cause Nephrolithiasis

Nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system, affects about 5%–10% of individuals worldwide at some point in their lifetime and results in significant medical costs and morbidity. To date, mutations in more than 30 genes have been descr...

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Publicado en:Am J Hum Genet
Autores principales: Gee, Heon Yung, Jun, Ikhyun, Braun, Daniela A., Lawson, Jennifer A., Halbritter, Jan, Shril, Shirlee, Nelson, Caleb P., Tan, Weizhen, Stein, Deborah, Wassner, Ari J., Ferguson, Michael A., Gucev, Zoran, Sayer, John A., Milosevic, Danko, Baum, Michelle, Tasic, Velibor, Lee, Min Goo, Hildebrandt, Friedhelm
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908148/
https://ncbi.nlm.nih.gov/pubmed/27210743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.03.026
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