Associated Papers
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.
Li BC et al.
American Journal of Medical Genetics. Part A, 2013
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Daniel PB et al.
Human Mutation, 2012
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C et al.
Human Mutation, 2006
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