Le syndrome de Marfan et pathologies associées : identification de nouveaux gènes impliqués dans la bicuspidie de la valve aortique

Le syndrome de Marfan et pathologies associées : identification de nouveaux gènes impliqués dans la bicuspidie de la valve aortique

Le syndrome de Marfan (MFS) est une maladie génétique rare. Les signes cliniques sont principalement squelettiques, oculaires et cardiovasculaires. Le premier gène identifié est FBN1. Une LSDB UMD créée en 1995 a permis de colliger les mutations identifiées chez les patients. D’autres gènes ont été...

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Bibliographic Details
Main Author:	Pinard, Amélie
Other Authors:	Aix-Marseille
Language:	fr en
Published:	2016
Subjects:	Syndrome de Marfan Bases de données Mutations Bicuspidie de la Valve Aortique Hoxa1 Séquençage nouvelle génération Marfan syndrome Databases Bicuspid Aortic Valve Next generation sequencing
Online Access:	http://www.theses.fr/2016AIXM5022

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