Browsing College of Medicine by Subject "mutations"
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Molecular profiling of the metaplastic spindle cell carcinoma of the breast reveals potentially targetable biomarkers
( Elsevier , 2020 , Article)IntroductionSpindle cell carcinoma is a rare subtype of metaplastic breast cancer (MBC), with triple-negative (TNBC: ER-/PR-/Her2-) phenotype. It is associated with a marked resistance to conventional chemotherapy and has ... -
The Spectrum of Mutations of Homocystinuria in the MENA Region
( MDPI , 2020 , Article Review)Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine. ...