Skip to main content
. 2020 Aug 8;8(10):e1428. doi: 10.1002/mgg3.1428

Figure 2.

Figure 2

Family trees of patients with WD who carry the intronic variant NG_008806.1(ATP7B_v001):c.2866‐1521G>A. (a) Family 1: The index case is a compound heterozygote for the missense mutation NM_000053.4:c.3551T>C, p.(Ile1184 Thr), and the intronic variant NG_008806.1(ATP7B_v001):c.2866‐1521G>A. (b) Family 2: Both affected patients are compound heterozygous for the missense mutation NM_000053.4: c.3207C>A, p.(His1069Gln), and the intronic variant NG_008806.1(ATP7B_v001):c.2866‐1521G>A. The father of the affected patients was not available and his genotype is indicated as “?”. (c) Family 3: The index case is a compound heterozygote for the missense mutation NM_000053.4: c.3121C>T, p.(Arg1041Trp), and the intronic variant NG_008806.1(ATP7B_v001):c.2866‐1521G>A