EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

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Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease

P2860

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P2860

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

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http://www.wikidata.org/entity/Q43926355

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

@en

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

@nl

type

Item

label

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

@en

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

@nl

prefLabel

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

@en

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

@nl

P1476

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

@en

P2093

Milena Ivanova

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

Tzvetan Alaikov

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P2860

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Erythrocytosis associated with a novel missense mutation in the HIF2A gene.

Two new mutations in the HIF2A gene associated with erythrocytosis.

Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.

The HIF pathway and erythrocytosis.

Genetic basis of congenital erythrocytosis: mutation update and online databases.

A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

P304

619-622

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P31

scholarly article

P356

10.1080/10245332.2016.1192394

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P433

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

P478

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

P50

Velizar Shivarov

P577

2016-06-13T00:00:00Z

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P698

27292716

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P921

Bulgaria

birth defect

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

about

P2860

P2860

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921