A composite fragment composed of 400bp from exons 1-3 of a BTK cDNA as well as 27kb genomic fragment containing exons 3-19 of BTK was placed under the control of the promoter region of human CD19. A Y223F mutation was introduced into this construct by double stranded site-directed mutagenesis. (J:120989)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count