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Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing

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摘要 To the Editor:Autosomal dominant polycystic kidney disease(ADPKD)is a common inherited kidney disease with an estimated incidence of 1 in 400 to 1 in 1000.[1] It is a late-onset systemic disorder characterized by the development and progressive enlargement of cysts in the kidney,eventually leading to end-stage renal disease.[2] Previous studies have shown that ADPKD is a heterogeneous monogenic disorder resulting from mutations in two genes:PKD1 and PKD2.Clinical data showed that PKD1 and PKD2 mutations account for 85% and 15% of ADPKD cases,respectively.[3]
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2020年第6期738-740,共3页 中华医学杂志(英文版)
基金 This work was supported by grants from the National Natural Science Foundation of China(No.81070131) the Program for Liaoning Excellent Talents in University(No.LJQ2012069) the Natural Science Foundation of Liaoning Province(No.201602852).
关键词 PKD1 KIDNEY CLINICAL
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