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Authors would like to change annotation of variants in Table 1 and its legend according to HGVS nomenclature recommendation.
1. Ex7 dupl/c.101delAinsAG* → Ex7 dupl/c.106duplG
2. G284R/c.674insT → G284R/c.539_540insT
Accordingly, corrected Table 1 and its legend should be as follows:
Figures and Tables
Table 1
Demographic characteristics of patients with PARK2 mutations, and the type and location of the mutations
Sex |
Age at sample |
Age at onset |
Family history |
Variants of PARK2
|
Zygosity |
F |
17 |
17 |
- |
Ex1 del |
Heterozygous |
M |
56 |
35 |
- |
Ex1 del |
Heterozygous |
M |
26 |
26 |
+ |
Ex1 del |
Heterozygous |
M |
41 |
23 |
+ |
Ex1 del |
Heterozygous |
F |
32 |
32 |
+ |
Ex1 del |
Heterozygous |
M |
36 |
36 |
- |
Ex2 del |
Heterozygous |
F |
48 |
45 |
+ |
Ex2 dupl |
Heterozygous |
F |
28 |
28 |
+ |
Ex3 del |
Heterozygous |
F |
25 |
25 |
- |
Ex4 del |
Heterozygous |
M |
30 |
29 |
+ |
Ex4 del |
Heterozygous |
F |
23 |
15 |
- |
Ex5 dupl |
Heterozygous |
F |
36 |
36 |
+ |
Ex6 del |
Heterozygous |
F |
42 |
23 |
+ |
Ex7 del |
Heterozygous |
M |
43 |
41 |
- |
Ex10 del |
Homozygous |
F |
25 |
6 |
- |
Ex11 del |
Homozygous |
F |
50 |
30 |
+ |
Ex4 del |
Homozygous |
M |
34 |
28 |
- |
Ex2 del/Ex4 del |
Compound heterozygous |
F |
44 |
41.5 |
+ |
Ex7-10 del/Ex8-10 del |
Compound heterozygous |
M |
24 |
16 |
- |
Ex3 del/Ex1-4 del |
Compound heterozygous |
F |
38 |
12 |
- |
Ex7 dupl/c.106duplG |
Compound heterozygous |
F |
48 |
12 |
+ |
G284R/c.539_540insT |
Compound heterozygous |
M |
46 |
42 |
+ |
Ex2 del and Ex3 del |
Phase unknown |