Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

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Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.Elevated C-Reactive Protein Is Associated with Cognitive Decline in Outpatients of a General Hospital: The Project in Sado for Total Health (PROST).

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Q36012553-88F48E62-CACD-4D1D-99FB-01AC90F645B3 Q36635024-AC5779C0-BF75-4E88-ABF6-92F12FD4DC34

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Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

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http://www.wikidata.org/entity/Q44491007

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年学术文章

@wuu

2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

@yue

2014年學術文章

@zh

2014年學術文章

@zh-hant

name

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

@en

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

@nl

type

Item

label

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

@en

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

@nl

prefLabel

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

@en

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

@nl

P1476

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

@en

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Akinori Miyashita

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

Akio Yokoseki

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

Hiroki Maruyama

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

Ichiei Narita

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

Minako Wakasugi

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

Ryozo Kuwano

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

Shin Goto

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

P2860

Finding the missing heritability of complex diseases

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease

Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.

Mapping rare and common causal alleles for complex human diseases.

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.

Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease.

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.

Significance of screening for Fabry disease among male dialysis patients.

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

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s10157-014-0969-y

P304

225-230

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P31

scholarly article

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10.1007/S10157-014-0969-Y

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

P478

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

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Hirofumi Watanabe

P577

2014-04-10T00:00:00Z

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P5875

261519974

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P698

24718812

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Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

about

P2860

P2860

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

description

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P1433

P1476

P2093

P2860

P2888

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P356

P433

P478

P50

P577

P5875

P698

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P1476

P2093

P2860

P2888

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P356

P433

P478

P50

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P5875

P698