Gene: [17q2/KRT17] keratin 17, type I, alpha, acidic (pI 5.1; 46kD); pachyonychia congenita 1 (Jackson-Lawler type; MIM:167210); [CYKA17 PC ]
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REF |
MUT "McLean WHI &: Nature Genet, 9, 273-278, 1995 LIN,LOC,PAT "Munro CS &: J Med Genet, 31, 675-678, 1994 CLO,SEQ,GEN,LOC "Troyanovsky SM &: Eur J Cell Biol, 59, 127-137, 1992 IDN,PEP,FUN,EVO "see FAM:KRT/00.0 |
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KEY |
cysk, derm |
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CLA |
coding, basic |
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LOC |
17 q21-22 |
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MIM |
MIM: 148069 |
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SYN |
CYKA17 PC |
