Loss-of-function mutations of SCN10A encoding Na(V)1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease

Human kidney stone disease (KSD) causes significant morbidity and public health burden worldwide. The etiology of KSD is heterogeneous, ranging from monogenic defects to complex interaction between genetic and environmental factors. However, the genetic defects causing KSD in the majority of affecte...

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Publicado no:Sci Rep
Main Authors: Nettuwakul, Choochai, Praditsap, Oranud, Sawasdee, Nunghathai, Rungroj, Nanyawan, Ruamyod, Katesirin, Watanapa, Wattana B., Junking, Mutita, Sangnual, Sittideth, Sritippayawan, Suchai, Cheunsuchon, Boonyarit, Chuawattana, Duangporn, Rojsatapong, Santi, Chaowagul, Wipada, Dib-Hajj, Sulayman D., Waxman, Stephen G., Yenchitsomanus, Pa-thai
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6041274/
https://ncbi.nlm.nih.gov/pubmed/29992996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-28623-3
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