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pro vyhledávání: '"Isabel A. Munoz-Tucker"'
Autor:
Savannah Perno, Hanna Fares, Natasha Bhuyan, Allison Crain, Hope Dang, Julie M. Huynh, Marvin O’Ketch, Isabel A. Munoz-Tucker, Ivan A. Borbon, Ian T. Liu
Publikováno v:
Genetics. 202(2)
Mutations in MCOLN1, which encodes the cation channel protein TRPML1, result in the neurodegenerative lysosomal storage disorder Mucolipidosis type IV. Mucolipidosis type IV patients show lysosomal dysfunction in many tissues and neuronal cell death.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026edd6332bdf21886e1a477d3277222
https://pubmed.ncbi.nlm.nih.gov/27053124
https://pubmed.ncbi.nlm.nih.gov/27053124
