Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.

Chen, Xi Jun; Wu, Yan-an; Chen, Fa-wen; Chen, Fa-lin; Huang, Yi; Huang, Xiao-li; Ma, Xiao-ling; Chen, Tong

Chen, Xi Jun; Wu, Yan-an; Chen, Fa-wen; Chen, Fa-lin; Huang, Yi; Huang, Xiao-li; Ma, Xiao-ling; Chen, Tong.

Affiliation

Chen XJ; Fujian Provincial Hospital, Clinical Laboratory, Dong Street, 134, 350001, Fuzhou, People's Republic of China. chenxijun157@163.com

Hum Genet ; 122(5): 548, 2007 Dec.

Article in En | MEDLINE | ID: mdl-18380029

Subject(s)

Marfan Syndrome/genetics; Microfilament Proteins/genetics; Mutation, Missense; Fibrillin-1; Fibrillins; Humans; Introns; RNA Splicing/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Marfan Syndrome / Microfilament Proteins Limits: Humans Language: En Journal: Hum Genet Year: 2007 Document type: Article

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