Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Author(s):
Daniel, P.B.; Morgan, T.; Alanay, Y.; Bijlsma, E.; Cho, T.J.; Cole, T.; Collins, F.; David, A.; Devriendt, K.; Faivre, L.; Ikegawa, S.; Jacguemont, S.; Jesic, M.; Krakow, D.; Liebrecht, D.; Maitz, S.; Marlin, S.; Morin, G.; Nishikubo, T.; Nishimura, G.; Prescott, T.; Scarano, G.; Shafeghati, Y.; Skovby, F.; Tsutsumi, S.; Whiteford, M.; Zenker, M.; Robertson, S.P.
Published
2012
Publication type
Article / Letter to editor
FLNBFLNAatelosteogenesisboomerang dysplasiaLarsen syndrome
Date issued
2012-04-30
Language
English
Is part of
Human Mutation (2012), Vol. 33, no. 4, p. 665-673
hdl
1887/102695
doi
10.1002/humu.22012