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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

New mutations in the neuronal ceroid lipofuscinosis genes.

Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/ TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database ([1]


  1. New mutations in the neuronal ceroid lipofuscinosis genes. Mole, S.E., Zhong, N.A., Sarpong, A., Logan, W.P., Hofmann, S., Yi, W., Franken, P.F., van Diggelen, O.P., Breuning, M.H., Moroziewicz, D., Ju, W., Salonen, T., Holmberg, V., Järvelä, I., Taschner, P.E. Eur. J. Paediatr. Neurol. (2001) [Pubmed]
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