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Analysis of Mutations in Chinese Patients with Polycystic Kidney Disease by Targeted Exome Sequencing

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Journal Genes Dis
Date 2024 Oct 21
PMID 39430052
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References
1.
Trujillano D, Bullich G, Ossowski S, Ballarin J, Torra R, Estivill X . Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. Mol Genet Genomic Med. 2014; 2(5):412-21. PMC: 4190876. DOI: 10.1002/mgg3.82. View

2.
Ali H, Al-Mulla F, Hussain N, Naim M, Asbeutah A, AlSahow A . PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. Sci Rep. 2019; 9(1):4141. PMC: 6412018. DOI: 10.1038/s41598-019-40761-w. View

3.
Bergmann C, Guay-Woodford L, Harris P, Horie S, Peters D, Torres V . Polycystic kidney disease. Nat Rev Dis Primers. 2018; 4(1):50. PMC: 6592047. DOI: 10.1038/s41572-018-0047-y. View

4.
Ghata J, Cowley Jr B . Polycystic Kidney Disease. Compr Physiol. 2017; 7(3):945-975. DOI: 10.1002/cphy.c160018. View

5.
Levey A, Stevens L, Schmid C, Zhang Y, Castro 3rd A, Feldman H . A new equation to estimate glomerular filtration rate. Ann Intern Med. 2009; 150(9):604-12. PMC: 2763564. DOI: 10.7326/0003-4819-150-9-200905050-00006. View