'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.

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'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.

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http://www.wikidata.org/entity/Q48357318

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2016 nî lūn-bûn

@nan

2016年の論文

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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

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2016年學術文章

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name

'De novo' Col4A2 mutation in a ...... , and small carotid aneurysms.

@en

'De novo' Col4A2 mutation in a ...... , and small carotid aneurysms.

@nl

type

Item

label

'De novo' Col4A2 mutation in a ...... , and small carotid aneurysms.

@en

'De novo' Col4A2 mutation in a ...... , and small carotid aneurysms.

@nl

prefLabel

'De novo' Col4A2 mutation in a ...... , and small carotid aneurysms.

@en

'De novo' Col4A2 mutation in a ...... , and small carotid aneurysms.

@nl

P1476

'De novo' Col4A2 mutation in a ...... y, and small carotid aneurysms

@en

P2093

André Peeters

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Olivier Vanakker

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Yves Sznajer

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P2860

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

COL4A1 mutation revealed by an isolated brain hemorrhage.

P2888

s00415-016-8280-3

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2327-2329

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scholarly article

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10.1007/S00415-016-8280-3

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P433

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P478

263

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P50

Paul Kollmann

P577

2016-09-13T00:00:00Z

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P698

27624120

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