Publications:

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Orphanet Journal Of Rare Diseases

Santorelli, Filippo Maria FM; Garavaglia, Barbara B; Cardona, Francesco F; Nardocci, Nardo N; Bernardina, Bernardo Dalla BD; Sartori, Stefano S; Suppiej, Agnese A; Bertini, Enrico E; Claps, Dianela D; Battini, Roberta R; Biancheri, Roberta R; Filocamo, Mirella M; Pezzini, Francesco F; Simonati, Alessandro A

Publication Date: 2013-02-02

Variant appearance in text: CLN5: 672delG; Trp224*

PubMed Link: 23374165

Variant Present in the following documents:

• 1750-1172-8-19-S1.xls, sheet 1

View BVdb publication page