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...

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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2013
Konular:
Research
Online Erişim: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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