Lanean...

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Transl Med
Egile Nagusiak: Hsieh, Shu-Chen, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsieh, Yu-Ping, Niu, Dau-Ming
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: AME Publishing Company 2015
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563484/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB150
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!