Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease
about
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.Genetic and Developmental Basis of Cardiovascular MalformationsAetiology and management of hereditary aortopathy.A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease
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Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease
description
im November 2014 veröffentlichter wissenschaftlicher Artikel
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scientific article published on 19 July 2014
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wetenschappelijk artikel
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наукова стаття, опублікована в листопаді 2014
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name
Whole exome sequencing for the ...... f non-syndromic aortic disease
@en
Whole exome sequencing for the ...... f non-syndromic aortic disease
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type
label
Whole exome sequencing for the ...... f non-syndromic aortic disease
@en
Whole exome sequencing for the ...... f non-syndromic aortic disease
@nl
prefLabel
Whole exome sequencing for the ...... f non-syndromic aortic disease
@en
Whole exome sequencing for the ...... f non-syndromic aortic disease
@nl
P2093
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P1433
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Whole exome sequencing for the ...... f non-syndromic aortic disease
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P2093
Alejandro Blanco-Verea
Artur Evangelista
Beatriz Sobrino
David García-Dorado
Mar Borregan
Marina Gago-Díaz
Miguel Del Campo
P356
10.1016/J.CCA.2014.07.016
P577
2014-07-19T00:00:00Z