Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.
Munroe
P B
PB
Greene
N D
ND
Leung
K Y
KY
Mole
S E
SE
Gardiner
R M
RM
Mitchison
H M
HM
Stephenson
J B
JB
Crow
Y J
YJ
D017668:Age of Onset; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D012606:Scotland; D013869:Thiolester Hydrolases / Q000235:genetics*
D013869:Thiolester Hydrolases; C095299:palmitoyl-protein thioesterase