NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
Canine CNCL/CLN8
English Setter dog
No. of disease causing mutations: 1
Identifier
Nucleotide change
Mutation
Amino acid change/ Predicted consequence
Location
Restriction site change
Reference
dcln8.001
c.491T>C
Missense
L164P
Katz et al. 2005 Biochem Biophys Res Comm 327: 541-547
back