Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia - sprookjes - yvandenbroek - TriplyDB

Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia

Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia

http://www.wikidata.org/entity/Q34038779

about

Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

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P2860

Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia

http://www.wikidata.org/entity/Q34038779

description

2011 nî lūn-bûn

@nan

2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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type

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

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1471-2350-12-130

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BMC Medical Genetics

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Clinical and genetic analyses ...... ary hemorrhagic telangiectasia

@en

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Hyoung-Doo Lee

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Jae-Bom Lee

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Jiyoung Seo

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Kyu-Yong Lee

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Mi-Jung Kim

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Seon-Tae Kim

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Suk P Oh

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Young-Jae Lee

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P2860

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

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

Bone morphogenetic protein-9 is a circulating vascular quiescence factor

A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

Pushing the limits of the scanning mechanism for initiation of translation

A perfect message: RNA surveillance and nonsense-mediated decay

A comprehensive collection of experimentally validated primers for Polymerase Chain Reaction quantitation of murine transcript abundance.

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1471-2350-12-130

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130

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scholarly article

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10.1186/1471-2350-12-130

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12

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2011-10-03T00:00:00Z

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hereditary hemorrhagic telangiectasia

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