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المؤلفون: Sara E. Mole, Uma Chandrachud, Elisabeth S. Butz, Susan L. Cotman
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1866:165571
مصطلحات موضوعية: 0301 basic medicine, Batten disease, Membrane Proteins, Genomics, Disease, Gene mutation, Biology, medicine.disease, Phenotype, Lipofuscin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Mutation, Lysosomal storage disease, medicine, Animals, Humans, Molecular Medicine, Neuronal ceroid lipofuscinosis, Molecular Biology, Neuroscience, 030217 neurology & neurosurgery, Oligonucleotide Array Sequence Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016e64ad262451cc97c8d4888067baa2Test
https://doi.org/10.1016/j.bbadis.2019.165571Test -
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المؤلفون: Anton Petcherski, Aleksandra Somogyi, Ritva Tikkanen, Frances M. Platt, David A. Priestman, Mylene Huebecker, Benedikt Beckert, Susan L. Cotman, Antje Banning, Mika O. Ruonala
المصدر: International Journal of Molecular Sciences; Volume 19; Issue 2; Pages: 625
International Journal of Molecular Sciences, Vol 19, Iss 2, p 625 (2018)
International Journal of Molecular Sciencesمصطلحات موضوعية: 0301 basic medicine, Batten disease, lcsh:Chemistry, Exon, Mice, 0302 clinical medicine, Cerebellum, Gangliosides, lcsh:QH301-705.5, Spectroscopy, Membrane Glycoproteins, glycosphingolipids, Chemistry, CLN3, General Medicine, gangliosides, Computer Science Applications, Neuronal ceroid lipofuscinosis, lipids (amino acids, peptides, and proteins), neuronal ceroid lipofuscinosis, lysosomal storage disorders, Cholera Toxin, endocrine system, Lysosomal storage disorders, Catalysis, Article, Glycosphingolipids, Inorganic Chemistry, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Precursor cell, medicine, Animals, G(M3) Ganglioside, ddc:610, Physical and Theoretical Chemistry, Molecular Biology, Gene, Ganglioside, Organic Chemistry, Wild type, medicine.disease, Molecular biology, carbohydrates (lipids), Disease Models, Animal, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, Lysosomes, 030217 neurology & neurosurgery, Molecular Chaperones
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999b4a63ee62f082c76105c6bee573d6Test
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المؤلفون: Sara E. Mole, Susan L. Cotman
المصدر: Biochimica et biophysica acta. 1852(10 Pt)
مصطلحات موضوعية: Batten disease, KCTD7, Biology, engineering.material, Article, 03 medical and health sciences, 0302 clinical medicine, Batten, medicine, Kufs disease, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, NCL, medicine.disease, Phenotype, 3. Good health, Neuronal ceroid lipofuscinosis, CLN3, CLN8, engineering, Molecular Medicine, CLN, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d55dd7d2c9ad552813d1ffd9e66622Test
https://pubmed.ncbi.nlm.nih.gov/26026925Test