Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 years of age, using gene panel sequencing of 30 genes...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Kidney Int
Main Authors: Daga, Ankana, Majmundar, Amar J., Braun, Daniela A., Gee, Heon Yung, Lawson, Jennifer A., Shril, Shirlee, Jobst-Schwan, Tilman, Vivante, Asaf, Schapiro, David, Tan, Weizhen, Warejko, Jillian K., Widmeier, Eugen, Nelson, Caleb P., Fathy, Hanan M., Gucev, Zoran, Soliman, Neveen A., Hashmi, Seema, Halbritter, Jan, Halty, Margarita, Kari, Jameela, El-Desoky, Sherif, Ferguson, Michael A., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daouk, Ghaleb H., Rodig, Nancy M., Katz, Avi, Hanna, Christian, Schwaderer, Andrew L., Sayer, John A., Wassner, Ari J., Mane, Shrikant, Lifton, Richard P., Milosevic, Danko, Tasic, Velibor, Baum, Michelle A., Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5750088/
https://ncbi.nlm.nih.gov/pubmed/28893421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2017.06.025
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados