A novel loss-of-function mutation of PBK associated with human kidney stone disease

Kidney stone disease (KSD) is a prevalent disorder that causes human morbidity worldwide. The etiology of KSD is heterogeneous, ranging from monogenic defect to complex interaction between genetic and environmental factors. Since mutations of genes responsible for KSD in a majority of families are s...

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Publicado no:Sci Rep
Main Authors: Nettuwakul, Choochai, Sawasdee, Nunghathai, Praditsap, Oranud, Rungroj, Nanyawan, Pasena, Arnat, Dechtawewat, Thanyaporn, Deejai, Nipaporn, Sritippayawan, Suchai, Rojsatapong, Santi, Chaowagul, Wipada, Yenchitsomanus, Pa-thai
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7314804/
https://ncbi.nlm.nih.gov/pubmed/32581305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-66936-4
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