Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease-Reference-Cited by-同舟云学术

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Published:2018 Issue:3 Volume:51 Page:
ISSN:1414-431X
Container-title:Brazilian Journal of Medical and Biological Research
language:
Short-container-title:Braz J Med Biol Res

Author:

Lopes L.B.¹,Abreu C.C.¹,Souza C.F.¹,Guimaraes L.E.R.¹,Silva A.A.¹,Aguiar-Alves F.²,Kidd K.O.³,Kmoch S.⁴,Bleyer A.J.³,Almeida J.R.¹

Affiliation:

1. Universidade Federal Fluminense, Brasil

2. Universidade Federal Fluminense, Brasil; Universidade Federal Fluminense, Brasil

3. Wake Forest School of Medicine, USA

4. Charles University in Prague, Czech Republic

Publisher

FapUNIFESP (SciELO)

Subject

Cell Biology,General Pharmacology, Toxicology and Pharmaceutics,General Medicine,Immunology,Physiology,Biochemistry,General Neuroscience,Biophysics,General Medicine

Link

http://www.scielo.br/pdf/bjmbr/v51n3/1414-431X-bjmbr-1414-431X20176560.pdf

Reference31 articles.

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

4. Hepatocyte nuclear factor 1beta-associated kidney disease: more than renal cysts and diabetes;Verhave JC;J Am Soc Nephrol,2016

5. Heterozygous loss-of-function SEC61A1 Mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia;Bolar NA;Am J Hum Genet,2016

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1. Computational investigation of a novel uromodulin gene mutation (p.Y286C) in a family with autosomal dominant tubulointerstitial renal disease: A case study;Human Gene;2023-09

2. Susceptibility genes of hyperuricemia and gout;Hereditas;2022-08-04

3. Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review;Renal Replacement Therapy;2020-02-07