Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis-Reference-Cited by-同舟云学术

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis

Published:2023-12 Issue: Volume: Page:
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Kmochová Tereza,Kidd Kendrah O.,Orr Andrew,Hnízda Aleš,Hartmannová Hana,Hodaňová Kateřina,Vyleťal Petr,Naušová Karolína,Brinsa Vítězslav,Trešlová Helena,Sovová Jana,Barešová Veronika,Svojšová Klára,Vrbacká Alena,Stránecký Viktor,Robins Victoria C.,Taylor Abbigail,Martin Lauren,Rivas-Chavez Ana,Payne Riley,Bleyer Heidi A.,Williams Adrienne,Rennke Helmut G.,Weins Astrid,Short Patrick J.,Agrawal Varun,Storsley Leroy J.,Waikar Sushrut S.,McPhail Ellen D.,Dasari Surendra,Leung Nelson,Hewlett Tom,Yorke Jake,Gaston Daniel,Geldenhuys Laurette,Samuels Mark,Levine Adam P.,West Michael,Hůlková Helena,Pompach Petr,Novák Petr,Weinberg Richard B.,Bedard Karen,Živná Martina,Sikora Jakub,Bleyer Anthony J.,Kmoch Stanislav

Publisher

Elsevier BV

Subject

Nephrology

Reference41 articles.

1. Autosomal dominant tubulointerstitial kidney disease: a review;Zivna;Am J Med Genet C Semin Med Genet,2022

2. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy;Hart;J Med Genet,2002

3. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing;Kirby;Nat Genet,2013

4. Diagnostic utility of exome sequencing for kidney disease;Groopman;N Engl J Med,2019

5. Autosomal dominant tubulointerstitial kidney disease;Devuyst;Nat Rev Dis Primers,2019