Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

about

Pulmonary arteriovenous malformation-etiology, clinical four case presentations and review of the literature.Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.

P2860

Q35889584-BD170A60-75A0-4D9B-BF29-D98C944496AA Q47968783-E1BAF54A-76C4-4A3E-9D6B-C1E29A733515

P2860

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Item

http://www.wikidata.org/entity/Q48187801

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

Mutation analysis in Norwegian ...... : founder mutations in ACVRL1.

@en

Mutation analysis in Norwegian ...... : founder mutations in ACVRL1.

@nl

type

Item

label

Mutation analysis in Norwegian ...... : founder mutations in ACVRL1.

@en

Mutation analysis in Norwegian ...... : founder mutations in ACVRL1.

@nl

prefLabel

Mutation analysis in Norwegian ...... : founder mutations in ACVRL1.

@en

Mutation analysis in Norwegian ...... : founder mutations in ACVRL1.

@nl

P1476

Mutation analysis in Norwegian ...... : founder mutations in ACVRL1.

@en

P2093

B Dalhus

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

K Eiklid

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

M A Kulseth

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

M Kroken

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

O K Rødningen

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

R Andersen

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

S Dheyauldeen

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

T Røysland

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

P2860

Genomic analysis of the eukaryotic protein kinase superfamily: a perspective

Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.

Genetic epidemiology of BRCA1 mutations in Norway.

P304

182-186

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

P31

scholarly article

P356

10.1111/CGE.12612

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

P433

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

P478

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

P50

Ketil R. Heimdal

P577

2015-05-13T00:00:00Z

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

P698

25970827

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

P921

hereditary hemorrhagic telangiectasia

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

about

P2860

P2860

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

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