Gene: [01q/PKP1] plakophilin 1 (band 6 protein); ectodermal dysplasia/skin fragility syndrome; [B6P ]
|
REL |
GEM:00.0/PKP2; GEM:00.0/PKP3. |
|
REF |
LOC "Cowley CME &: Hum Genet, 100, N3-4, 486-488, 1997 CLO,SEQ "Hatzfeld M &: J Cell Sci, 107, 2259-2270, 1994 CLO,SEQ "Heid HW &: Differentiation, 58, N2, 113-131, 1994 MUT "McGrath JA &: Nature Genet, 17, N2, 240-244, 1997 |
|
CLA |
coding, basic |
|
LOC |
01 q |
|
MIM |
MIM: 601975 |
|
SYN |
B6P |
