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2012 | 1 |
2019 | 1 |
2020 | 1 |
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The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.
Mol Cell Biol. 2012 May;32(10):1855-66. doi: 10.1128/MCB.06726-11. Epub 2012 Mar 19.
Mol Cell Biol. 2012.
PMID: 22431521
Free PMC article.
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
Parvin S, Rezazadeh M, Hosseinzadeh H, Moradi M, Shiva S, Gharesouran J.
Parvin S, et al.
Neuromolecular Med. 2019 Jun;21(2):160-169. doi: 10.1007/s12017-019-08529-7. Epub 2019 Mar 27.
Neuromolecular Med. 2019.
PMID: 30919163
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A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
Li W, Fan X, Zhang Y, Huang L, Jiang T, Qin Z, Su J, Luo J, Yi S, Zhang S, Shen Y.
Li W, et al.
BMC Med Genet. 2020 May 11;21(1):100. doi: 10.1186/s12881-020-01039-5.
BMC Med Genet. 2020.
PMID: 32393339
Free PMC article.
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