Tag Archives: exome sequencing

Scientists discover gene mutation that causes children to be born without spleen


An international team of scientists led by Rockefeller University researchers has identified the defective gene responsible for a rare disorder in which children are born without a spleen, which makes them susceptible to life-threatening bacterial infections early in life. The findings may lead to new diagnostic tests and raises new questions about the role of this gene in the body’s protein-making machinery.

More »

Tags: ,