Gene: [08q24/PLEC1] plectin 1, intermediate filament binding protein, 500kD; muscular dystrophy with epidermolysis bullosa simplex (MIM:226670); [PCN ]
|
REF |
CLO,SEQ,STR,LOC "Liu C &: PNAS, 93, N9, 4278-4283, 1996 MUT "Pulkkinen L &: Hum Mol Genet, 5, N10, 1539-1546, 1996 MUT "Smith FJD &: Nature Genet, 13, N4, 450-457, 1996 |
|
CLA |
coding, basic |
|
LOC |
08 q24 |
|
MIM |
MIM: 601282 |
|
SYN |
PCN |
