Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.
Chen
Xi Jun
XJ
Fujian Provincial Hospital, Clinical Laboratory, Dong Street, 134, 350001, Fuzhou, People's Republic of China. chenxijun157@163.com
Wu
Yan-an
YA
Chen
Fa-wen
FW
Chen
Fa-lin
FL
Huang
Yi
Y
Huang
Xiao-li
XL
Ma
Xiao-ling
XL
Chen
Tong
T
D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007438:Introns; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D020125:Mutation, Missense; D012326:RNA Splicing / Q000235:genetics; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines