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Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

We demonstrate here that at least four genetically separate loci are involved in the pathogenesis of human neuronal ceroid lipofuscinoses (NCLs), fatal brain disorders of children. Earlier the assignments of the infantile and juvenile subtypes of NCL to 1p32 and 16p12 had revealed two loci; and here...

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Библиографические подробности
Главные авторы: Savukoski, M., Kestilä, M., Williams, R., Järvelä, I., Sharp, J., Harris, J., Santavuori, P., Gardiner, M., Peltonen, L.
Формат: Artigo
Язык:Inglês
Опубликовано: 1994
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918303/
https://ncbi.nlm.nih.gov/pubmed/7942847
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