Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

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Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

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P2860

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

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http://www.wikidata.org/entity/Q40422003

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Novel ELN mutation in a family ...... sis and intracranial aneurysm.

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type

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label

Novel ELN mutation in a family ...... sis and intracranial aneurysm.

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Novel ELN mutation in a family ...... sis and intracranial aneurysm.

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P1476

Novel ELN mutation in a family ...... sis and intracranial aneurysm.

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P2093

Anne Marie Jelsig

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Henrik Nissen

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Vishwanathan Hucthagowder

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P2860

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Supravalvular aortic stenosis: elastin arteriopathy

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11

Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis.

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage.

Elastin: mutational spectrum in supravalvular aortic stenosis.

P304

110-113

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scholarly article

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10.1016/J.EJMG.2016.11.004

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P478

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Zsolt Urban

Lilian Bomme Ousager

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2016-11-16T00:00:00Z

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27866049

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5843366

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Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

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P2860

P2860

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932