Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.
Kohan
Romina
R
Universidad Nacional de Córdoba, Secretaría de Ciencia y Técnica-SECYT, Centro de Estudio de las MetabolopatíasCongénitas (CEMECO), Hospital de Niños, Ferroviarios, 1250, X5014AKN, Córdoba, Argentinia. nclcemeco@nclcemeco.com.ar
Cannelli
Natalia
N
Aiello
Chiara
C
Santorelli
Filippo M
FM
Cismondi
Adriana I
AI
Milà
Montserrat
M
Oller Ramírez
Ana M
AM
Halac
Inés Noher
IN
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D051907:Lysosomal Membrane Proteins; D008297:Male; 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