Spectrum of mutations in the Batten disease gene, CLN3.

Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types. The Batten disease gene, CLN3, was recently isolated, and four disease-causing mutations we...

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Bibliografiska uppgifter
Huvudupphovsmän: Munroe, P B, Mitchison, H M, O'Rawe, A M, Anderson, J W, Boustany, R M, Lerner, T J, Taschner, P E, de Vos, N, Breuning, M H, Gardiner, R M, Mole, S E
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1997
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715900/
https://ncbi.nlm.nih.gov/pubmed/9311735
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