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. 2015 Jul 8;12(4):5072–5076. doi: 10.3892/mmr.2015.4063

Table I.

Synopsis of KRT17 mutations in SM pedigrees in Chinese non-Chinese populations from a review of previous studies.

Domain Mutation Phenotype Heredity Population Reference
V1 S24L 71C>T SM Familial Chinese (6)
1A N92H 274A>C SM Familial (7)
1A N92S 275A>G SM Familial Chinese (8)
PC-2 Familial (2)
Familial (3)
Familial (5)
Familial & sporadic (7)
Familial (9)
Familial (10)
Familial (11)
Familial (12)
1A R94H 281 SM Familial (7)
G>A SM Familial Chinese (8)
PC-2 Sporadic (13)
1A R94C 280 SM Familial Chinese (14)
C>T SM Familial (15)
PC-2 Familial (3)
Familial (12)
1A R94G 280C>G SM Familial Chinese (16)
2B L371P 1112T>C SM Familial (17)

SM, steatocystoma multiplex; PC-2, pachyonychia congenital type 2.