Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

BACKGROUND: To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations. METHODS: A cohort of NCL patients was recruited through CLNet, a nationwide netw...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Santorelli, Filippo Maria, Garavaglia, Barbara, Cardona, Francesco, Nardocci, Nardo, Bernardina, Bernardo Dalla, Sartori, Stefano, Suppiej, Agnese, Bertini, Enrico, Claps, Dianela, Battini, Roberta, Biancheri, Roberta, Filocamo, Mirella, Pezzini, Francesco, Simonati, Alessandro
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570295/
https://ncbi.nlm.nih.gov/pubmed/23374165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-19
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