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

about

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

Item

http://www.wikidata.org/entity/Q55339157

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh

2018年學術文章

@zh-hant

name

Identification of a novel UMOD ...... lointerstitial kidney disease.

@en

Identification of a novel UMOD mutation

@nl

type

Item

label

Identification of a novel UMOD ...... lointerstitial kidney disease.

@en

Identification of a novel UMOD mutation

@nl

prefLabel

Identification of a novel UMOD ...... lointerstitial kidney disease.

@en

Identification of a novel UMOD mutation

@nl

P1476

Identification of a novel UMOD ...... ulointerstitial kidney disease

@en

P2093

A A Silva

http://www.w3.org/2001/XMLSchema#string

A J Bleyer

http://www.w3.org/2001/XMLSchema#string

C C Abreu

http://www.w3.org/2001/XMLSchema#string

C F Souza

http://www.w3.org/2001/XMLSchema#string

F Aguiar-Alves

http://www.w3.org/2001/XMLSchema#string

K O Kidd

http://www.w3.org/2001/XMLSchema#string

L B Lopes

http://www.w3.org/2001/XMLSchema#string

L E R Guimaraes

http://www.w3.org/2001/XMLSchema#string

S Kmoch

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

P304

e6560

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1590/1414-431X20176560

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Jorge Reis Almeida

P577

2018-03-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29513881

http://www.w3.org/2001/XMLSchema#string

P932

5912098

http://www.w3.org/2001/XMLSchema#string