The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01054.x/fullpdf
Reference35 articles.
1. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses. Review of data and observations;Wisniewski;Am J Med Genet,1992
2. Batten disease: past, present, and future;Rider;Am J Med Genet Suppl,1988
3. Neuronal ceroid-lipofuscinoses in childhood;Santavuori;Brain Dev,1988
4. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995
5. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997
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