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

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