Mutations that diminish expression of Kell surface protein and lead to the Kmod RBC phenotype

BACKGROUND: Kmod is an inherited rare RBC phenotype characterized by weak but detectable expression of high‐incidence Kell antigens. STUDY DESIGN AND METHODS: The 19 exons and the intron‐exon regions of the KEL gene from four unrelated Kmod individuals were sequenced and compared to wild‐type KEL. T...

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Veröffentlicht in:	Transfusion (Philadelphia, Pa.) Pa.), 2003-08, Vol.43 (8), p.1121-1125
Hauptverfasser:	Lee, Soohee, Russo, David C.W., Reid, Marion E., Redman, Colvin M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Antigens, Surface - genetics Antigens, Surface - metabolism Biological and medical sciences Biological Transport Blood Proteins - genetics Blood Proteins - metabolism Cell Line Cell Membrane - metabolism Erythrocytes - metabolism Erythrocytes - physiology Fundamental and applied biological sciences. Psychology Fundamental immunology Heterozygote Homozygote Humans Immunohematology Phenotype Point Mutation Red blood cell immunology Transfection
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