Article
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
Proceedings of the National Academy of Sciences of the United States of America - 20 Jul 1999
Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech H L, Matsuda I, Kanegasaki S
Abstract excerpt
A human disorder caused by mutation in nonmuscle actin has not been reported. We report here a variant of nonmuscle actin in a female patient with recurrent infections, photosensitivity, and mental retardation. She also had abnormalities in neutrophil chemotaxis, superoxide production, and membrane potential response. Two-dimensional PAGE analysis of proteins from neutrophils and other cell types from this...
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