Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Method...

Full description

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2013-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Childhood NCL
NCL Genes
Epidemiology
Italy
Online Access:http://www.ojrd.com/content/8/1/19

Internet

http://www.ojrd.com/content/8/1/19

Similar Items