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AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome

BACKGROUND AND OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder that involves in multisystem connective tissues. The various phenotypic manifestations of MFS are skeleton, ocular and cardiovascular system. MFS is mainly caused by mutations in the fibrillin-1 gene (FBN1 gene...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Hsieh, Shu-Chen, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsieh, Yu-Ping, Niu, Dau-Ming
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563484/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB150
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