A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
J. Clin. Invest. Akihisa Sawada, et al. 112:1707 doi:10.1172/JCI18937 [
Go to this article.]
Figure 2Products of LRRC8 and its mutant. (
a) mRNAs of wild-type and mutant forms. Black boxes, coding regions; white boxes, untranslated regions; black circles, stop codons; hatched box, the translated region from the intron. (
b) RT-PCR analysis. (
c–
e) Western blot analysis. (
c) Peripheral blood cells from a healthy control and the affected patient. CBB, Coomassie brilliant blue. (
d) Molecular weight estimation of the protein from healthy human bone marrow (BM). (
e) Bone marrow and peripheral blood (PB) cells from a human control and a mouse.
