Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
Siintola E; Partanen S; Strömme P; Haapanen A; Haltia M; Maehlen J; Lehesjoki AE; Tyynelä J; Brain: A Journal Of Neurology, 2006, vol. 129, issue Pt 6, p 1438, ISSN 14602156. ISBN 14602156.

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