Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.
Cismondi
I Adriana
IA
Universidad Nacional de Córdoba, Biología Celular A, Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Hospital de Niños, Ferroviarios, 1250, X5014AKN Córdoba, Argentinia.
Kohan
Romina
R
Ghio
Addy
A
Ramirez
Ana M Oller
AM
Halac
Inés Noher
IN
D000293:Adolescent; D019943:Amino Acid Substitution; D001118:Argentina; D001706:Biopsy; D003062:Codon / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009472:Neuronal Ceroid-Lipofuscinoses / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation
C447500:CLN6 protein, human; D003062:Codon; D008565:Membrane Proteins