Publications:

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Cellular And Molecular Life Sciences : Cmls

Basak, I I; Wicky, H E HE; McDonald, K O KO; Xu, J B JB; Palmer, J E JE; Best, H L HL; Lefrancois, S S; Lee, S Y SY; Schoderboeck, L L; Hughes, S M SM

Publication Date: 2021-05

Variant appearance in text: CLN5: 788T>A; V263E

PubMed Link: 33792748

Variant Present in the following documents:

• 18_2021_Article_3813.pdf

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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: 788T>A; Val263Glu

PubMed Link: 23374165

Variant Present in the following documents:

• 1750-1172-8-19-S1.xls, sheet 1

View BVdb publication page