Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia-Reference-Cited by-同舟云学术

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

Published:2020-08-09 Issue:11 Volume:182 Page:2521-2528
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Stevenson Mark¹^ORCID,Pagnamenta Alistair T.²,Reichart Silvia³,Philpott Charlotte¹,Lines Kate E.¹,Gorvin Caroline M.¹,Lhotta Karl⁴,Taylor Jenny C.²,Thakker Rajesh V.¹,

Affiliation:

1. Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM) Churchill Hospital, University of Oxford Oxford UK

2. Oxford BRC, WCHG, University of Oxford Oxford UK

3. Department of Ophthalmology Academic Teaching Hospital Feldkirch Austria

4. Department of Internal Medicine III (Nephrology and Dialysis) Academic Teaching Hospital Feldkirch Austria

Funder

Kidney Research UK

Medical Research Council Canada

National Institute for Health Research

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61814

Reference44 articles.

1. Autosomal Dominant Tubulointerstitial Kidney Disease

2. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

3. Purine-Rich Foods, Dairy and Protein Intake, and the Risk of Gout in Men

4. HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum

5. A Cluster of Mutations in the UMOD Gene Causes Familial Juvenile Hyperuricemic Nephropathy with Abnormal Expression of Uromodulin

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