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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Ann Transl Med
Hauptverfasser: Hsieh, Shu-Chen, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsieh, Yu-Ping, Niu, Dau-Ming
Format: Artigo
Sprache:Inglês
Veröffentlicht: AME Publishing Company 2015
Schlagworte:
Part 4: Oral/poster
Online Zugang: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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