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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Detalles Bibliográficos
Autores principales: Nettuwakul, Choochai, Sawasdee, Nunghathai, Praditsap, Oranud, Rungroj, Nanyawan, Pasena, Arnat, Dechtawewat, Thanyaporn, Deejai, Nipaporn, Sritippayawan, Suchai, Rojsatapong, Santi, Chaowagul, Wipada, Yenchitsomanus, Pa-thai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314804/
https://www.ncbi.nlm.nih.gov/pubmed/32581305
http://dx.doi.org/10.1038/s41598-020-66936-4

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