Gene: [14q1/PABP2] poly(A)-binding protein 2; oculopharyngeal muscular dystrophy, autosomal dominant (MIM:164300); oculopharyngeal muscular dystrophy, autosomal recessive (MIM:257950); [OPMD ]
REF |
MUT "Brais B &: Nature Genet, 18, N2, 164-167, 1998 LOC,LIN,PAT,FOG "Brais B &: Hum Mol Genet, 4, 429-434, 1995 |
KEY |
myo, neu, eye, tri |
CLA |
coding, basic |
LOC |
14 q11.2-13 |
MIM |
MIM: 602279 |
SYN |
OPMD |