Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

INTRODUCTION: Because of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, to analyze suspected primary hyperoxaluria (PH) or...

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Detalles Bibliográficos
Autores principales: Cogal, Andrea G., Arroyo, Jennifer, Shah, Ronak Jagdeep, Reese, Kalina J., Walton, Brenna N., Reynolds, Laura M., Kennedy, Gabrielle N., Seide, Barbara M., Senum, Sarah R., Baum, Michelle, Erickson, Stephen B., Jagadeesh, Sujatha, Soliman, Neveen A., Goldfarb, David S., Beara-Lasic, Lada, Edvardsson, Vidar O., Palsson, Runolfur, Milliner, Dawn S., Sas, David J., Lieske, John C., Harris, Peter C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8589729/
https://www.ncbi.nlm.nih.gov/pubmed/34805638
http://dx.doi.org/10.1016/j.ekir.2021.08.033

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