Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (Q51939346)

18 April 2018

title

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (English)

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18 April 2018

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18 April 2018

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Thierry Carrel

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18 April 2018

author name string

Eliane Arnold

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18 April 2018

Daniela Baumgartner

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18 April 2018

Catherine Boileau

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18 April 2018

Wolfgang Berger

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18 April 2018

Beat Steinmann

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18 April 2018

publication date

1 August 2006

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18 April 2018

published in

Human Mutation

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18 April 2018

volume

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18 April 2018

issue

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18 April 2018

page(s)

760-769

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18 April 2018

A dominant inhibitory mutant of the type II transforming growth factor beta receptor in the malignant progression of a cutaneous T-cell lymphoma

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Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

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Identifiers

DOI

10.1002/HUMU.20353

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18 April 2018

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18 April 2018