Table 2.
Clinical characteristics of 3 DOCK patients
Patient ID
.
Age at sample collection, y
.
Clinical score
.
Protein expression
.
Exon location
.
Auto antibody
.
P1
17
75
Absent
19-48 exon het del,
None
c.5842 delG,c.5843C>A
p.A1948fsX1953
P2
17
62
Absent
Exon 11 hom del. Exon 12-33 het del
None
P3
9
45
Absent
c.1278-1279 delTG p.V427fsX435
None
Patient ID
.
Age at sample collection, y
.
Clinical score
.
Protein expression
.
Exon location
.
Auto antibody
.
P1
17
75
Absent
19-48 exon het del,
None
c.5842 delG,c.5843C>A
p.A1948fsX1953
P2
17
62
Absent
Exon 11 hom del. Exon 12-33 het del
None
P3
9
45
Absent
c.1278-1279 delTG p.V427fsX435
None
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