Gene: [11p15/CLN2] ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschovsky disease); amaurotic idiocy, late infantile; [LNCL LINCL ]
|
HET |
Several types of hereditary ceroid-lipofuscinosis are known; see GEM:01p32/PPT." |
|
REF |
LIN,LOC,HET "Haines JL &: Am J Med Genet, 57, N2, 344-347, 1995 LIN,LOC "Sharp JD &: Hum Mol Genet, 6, N4, 591-595, 1997 LIN,LOC,HET "Sharp JD &: Am J Med Genet, 57, N2, 348-349, 1995 ASS,MUT "Sleat DE &: Science, 277, N5333, 1802-1805, 1997 |
|
KEY |
neu, lip |
|
CLA |
unknown, basic |
|
LOC |
11 p15 |
|
MIM |
MIM: 204500 |
|
SYN |
LNCL LINCL |
