Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
about
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic TelangiectasiaHereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesisThe use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.Spontaneous thrombosis of an orbital arteriovenous malformation revealing hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). A case report.Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.Executive summary of the 11th HHT international scientific conference.Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia in Japanese patients.Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.Clinical features and treatment of hereditary hemorrhagic telangiectasia
P2860
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P2860
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Molecular diagnosis in heredit ...... deletion/duplication analysis.
@en
Molecular diagnosis in heredit ...... deletion/duplication analysis.
@nl
type
label
Molecular diagnosis in heredit ...... deletion/duplication analysis.
@en
Molecular diagnosis in heredit ...... deletion/duplication analysis.
@nl
prefLabel
Molecular diagnosis in heredit ...... deletion/duplication analysis.
@en
Molecular diagnosis in heredit ...... deletion/duplication analysis.
@nl
P2093
P2860
P1433
P1476
Molecular diagnosis in heredit ...... deletion/duplication analysis.
@en
P2093
D A Stevenson
J M Chibuk
J McDonald
K Damjanovich
P Bayrak-Toydemir
W Wooderchak
P2860
P304
P356
10.1111/J.1399-0004.2010.01596.X
P577
2010-12-16T00:00:00Z