Figure 4.
TERC mutations in the DCR. The 11 TERC mutations that we have identified in patients in the DCR are shown on a sketch of the TERC molecule (based on information from Chen and Greider13 ). Mutations identified in patients presenting with AA are underlined. The 3 novel mutations are in bold. Arrows indicate point mutations or the location of breakpoints of large deletions; bars, small deletions.