Loss-of-function mutations of SCN10A encoding Na <inf>V</inf> 1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease

• Main Authors: Choochai Nettuwakul, Oranud Praditsap, Nunghathai Sawasdee, Nanyawan Rungroj, Katesirin Ruamyod, Wattana B. Watanapa, Mutita Junking, Sittideth Sangnual, Suchai Sritippayawan, Boonyarit Cheunsuchon, Duangporn Chuawattana, Santi Rojsatapong, Wipada Chaowagul, Sulayman D. Dib-Hajj, Stephen G. Waxman, Pa Thai Yenchitsomanus
• Other Authors: Sappasitthiprasong Hospital
• Format: Article
• Published: 2019
• Subjects: Multidisciplinary
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/47483
• Institution: Mahidol University

© 2018 The Author(s). 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...