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Article details
Wu et al. Chinese Medical Journal 2009;122:403-7.
Clinical reports from this article
Gene
Exon
Mutation
DNA Change
Protein Change
Controls
Patient
# Affected Relatives
Notes
Mutation details
PKP2
1
S50fsX110
c.145_148delCAGA
p.Thr50SerfsX61
0/160
TFC+
3
Mutation details
PKP2
1
K52K
c.156G>A
p.=
0/160
TFC+
Mutation details
PKP2
2
L111L
c.331C>T
p.=
0/160
TFC+
Mutation details
PKP2
4
L366P
c.1097T>C
p.Leu366Pro
0/160
TFC+
Mutation details
PKP2
11
Splice
c.2146-1_2146delGA
r.spl?
0/160
TFC+
Mutation details