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(mutation)
875,065 results
  • Hb Guangxi [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel β-Globin Variant. [Journal Article]
    Hemoglobin 2019; :1-2Xu M, Chen WD, … Ji L
  • We report a novel variant found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region of the People's Republic of China. This variant can be readily detected by both cation exchange high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Sanger sequencing revealed a novel mutation on the β-globin gene [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]. We n…
  • Binimetinib in heavily pretreated NRAS-mutant Melanoma Patients with Brain Metastases. [Letter]
    Br J Dermatol 2019Goldinger SM, Valeska Matter A, … Dummer R
  • Brain metastases are frequent in metastatic melanoma patients and indicate poor prognosis. Approximately 20% of all melanomas harbor an NRAS mutation (1). Although direct targeting RAS GTPase is difficult, preclinical in-vitro investigations suggest that melanomas harboring the NRAS mutation are sensitive to MEK inhibitors (2). Binimetinib, an orally bioavailable, selective and potent MEK1/2 inhi…
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