Article
Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
The Journal of biological chemistry - 4 Apr 2014
Liu Zhonghua, Li Fudong, Ruan Ke, Zhang Jiahai, Mei Yide, Wu Jihui, Shi Yunyu
Abstract excerpt
The plant homeodomain finger 6 (PHF6) was originally identified as the gene mutated in the X-linked mental retardation disorder Börjeson-Forssman-Lehmann syndrome. Mutations in the PHF6 gene have also been associated with T-cell acute lymphoblastic leukemia and acute myeloid leukemia. Approximately half of the disease-associated mutations are distributed in the second conserved extended plant homeodomain (ePHD2)...
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