Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: infantile (Haltia-Santavu...

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Detalhes bibliográficos
Main Authors: Williams, Ruth, Vesa, Jouni, Järvelä, Irma, McKay, Tristan, Mitchison, Hannah, Hellsten, Elina, Thompson, Andrew, Callen, David, Sutherland, Grant, Luna-Battadano, David, Stallings, Ray, Peltonen, Leena, Gardiner, Mark
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682401/
https://ncbi.nlm.nih.gov/pubmed/8213822
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