Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.

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第一作者： Benjamin,Apple

第一单位： Department of Medicine, Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania, USA.

作者： Benjamin,Apple ^[1] ; Gino,Sartori ^[2] ; Bryn,Moore ^[3] ; Kiran,Chintam ^[4] ; Gurmukteshwar,Singh ^[5] ; Prince Mohan,Anand ^[6] ; Natasha T,Strande ^[7] ; Tooraj,Mirshahi ^[3] ; William,Triffo ^[2] ; Alexander R,Chang ^[8]

作者单位： Department of Medicine, Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania, USA. ^[1] Department of Radiology, Geisinger, Danville, Pennsylvania, USA. ^[2] Department of Genomic Health, Geisinger, Danville, Pennsylvania, USA. ^[3] Department of Nephrology, Geisinger, Danville, Pennsylvania, USA. ^[4] Department of Nephrology, Geisinger, Danville, Pennsylvania, USA; Center for Kidney Health Research, Department of Population Health Sciences, Geisinger, Danville, Pennsylvania, USA. ^[5] Department of Nephrology, Medical University of South Carolina, Lancaster, South Carolina, USA. ^[6] Department of Genomic Health, Geisinger, Danville, Pennsylvania, USA; Autism and Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA. ^[7] Department of Nephrology, Geisinger, Danville, Pennsylvania, USA; Center for Kidney Health Research, Department of Population Health Sciences, Geisinger, Danville, Pennsylvania, USA. Electronic address: achang@geisinger.edu. ^[8]

关键词 autosomal dominant polycystic kidney disease chronic kidney disease genetics genotype-first polycystic liver disease renal cyst

主题词人类(Humans);多囊肾疾病(Polycystic Kidney Diseases);肾(Kidney);囊肿(Cysts);肝疾病(Liver Diseases);多囊肾, 常染色体显性(Polycystic Kidney, Autosomal Dominant);葡糖转移酶类(Glucosyltransferases)

DOI 10.1016/j.kint.2022.11.025

PMID 36574950

发布时间 2024-03-02

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