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Autor:
Charles Shyng, Mark S. Sands, Joshua T. Dearborn, Jui Yun Lu, Jonah Thornton, Subramania Ramachandran, Sandra L. Hofmann
Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is an invariably fatal neurodegenerative pediatric disorder caused by an inherited mutation in the PPT1 gene. Patients with INCL lack the lysosomal enzyme palmitoyl protein thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8833cc734d68fbf2f6a05af6358602a
https://europepmc.org/articles/PMC4755911/
https://europepmc.org/articles/PMC4755911/
