Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

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Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.Folding Defects Leading to Primary Hyperoxaluria.

P2860

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P2860

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

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http://www.wikidata.org/entity/Q45713851

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

@wuu

2013年学术文章

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2013年学术文章

@zh-cn

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@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh-hant

name

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

@en

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

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type

Item

label

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

@en

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

@nl

prefLabel

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

@en

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

@nl

P1476

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

@en

P2093

F Tanioka

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H Sugimura

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H Yamada

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K Johnin

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M Kawamura

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M Nagata

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M Ohse

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N Takaoka

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S Ozono

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S Tanaka

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P2860

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2

Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese

Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2

Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).

Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.

Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence.

Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism.

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342-348

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scholarly article

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10.1111/CGE.12292

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24116921

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Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

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P2860

P2860

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698