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Autor:
Xandra O. Breakefield, Cecile Julier, Wei-Lang Yan, Jonathan L. Haines, James F. Gusella, Rose-Mary Boustany, Ann F. Jewell
Publikováno v:
American Journal of Medical Genetics. 42:542-545
Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age-at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a811e2d25c3d9ee9f19ab1eb291d9ab7
https://doi.org/10.1002/ajmg.1320420424
https://doi.org/10.1002/ajmg.1320420424
