Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.
Cismondi
I Adriana
IA
Universidad Nacional de Córdoba, Secretaría de Ciencia y Técnica-SECYT, Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Hospital de Niños, Ferroviarios, 1250, X5014AKN, Córdoba, Argentinia. nclcemeco@nclcemeco.com.ar
Cannelli
Natalia
N
Aiello
Chiara
C
Santorelli
Filippo M
FM
Kohan
Romina
R
Oller Ramírez
Ana M
AM
Halac
Inés Noher
IN
D017668:Age of Onset; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007223:Infant; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000473:pathology
C113332:CLN5 protein, human; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins