Gene: [15q2/CLN6] ceroid-lipofuscinosis, neuronal 6, late infantile, variant; [LINCL ]
|
LIN |
By homozygosity mapping, the gene was shown to be located on 15q. Further analyses in the 2 families and study of 7 additional variant LINCL families localized the gene to 15q21-q23. A maximum total lod score of 6.0 was obtained at marker D15S1020 (theta = 0.00) (Sharp-1997)." |
|
HET |
See GEM:01p32/PPT[:HET]. |
|
REF |
PAT,FOG,LIN,LOC "Sharp JD &: Hum Mol Genet, 6, N4, 591-595, 1997 |
|
KEY |
neu, lip |
|
CLA |
unknown, basic |
|
LOC |
15 q21-23 |
|
MIM |
MIM: 601780 |
|
SYN |
LINCL |
