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The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part of Finland, with a local incidence of 1 in 1500. We recently assigned the locus for vLINCL, CLN5, to 13q21.1-q32. In the present study, the ha...

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Autors principals: Varilo, T., Savukoski, M., Norio, R., Santavuori, P., Peltonen, L., Järvelä, I.
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914587/
https://ncbi.nlm.nih.gov/pubmed/8644710
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