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المؤلفون: Arpita Thakker, Sanjiv Mehta, Jayesh Sheth, Vivek Jain, Madhulika Kabra, Frenny Sheth, Sheela Nampoothiri, Raju C Shah, Dhairya Pancholi, Riddhi Bhavsar, Mehul Mistri, Mahesh Kamate, Neerja Gupta
المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-11 (2018)
BMC Neurologyمصطلحات موضوعية: Male, 0301 basic medicine, Batten disease, India, Gene mutation, Aminopeptidases, lcsh:RC346-429, Frameshift mutation, PPT1, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Asian People, Neuronal Ceroid-Lipofuscinoses, Gene duplication, Humans, Medicine, Missense mutation, Genetic Testing, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Gene, lcsh:Neurology. Diseases of the nervous system, TPP1, Neuronal ceroid lipofuscinoses (NCL), Genetics, Sanger sequencing, Tripeptidyl-Peptidase 1, business.industry, Infant, Membrane Proteins, General Medicine, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, symbols, Female, Thiolester Hydrolases, Neurology (clinical), Serine Proteases, business, 030217 neurology & neurosurgery, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ae9410f3e16be2bea18bae1d9bebf9Test
https://doi.org/10.1186/s12883-018-1206-1Test -
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المؤلفون: Sara E. Mole
المصدر: Brain Pathol
مصطلحات موضوعية: Adult, Disease onset, Batten disease, Adolescent, Biology, Aminopeptidases, Pathology and Forensic Medicine, Disease course, Neuronal Ceroid-Lipofuscinoses, Endopeptidases, medicine, Humans, Age of Onset, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Gene, Genetics, Membrane Glycoproteins, Tripeptidyl-Peptidase 1, General Neuroscience, Infant, Lysosome-Associated Membrane Glycoproteins, Membrane Proteins, Symposium: The Neuronal Ceroid‐lipofuscinoses (Ncl‐a) Group of Lysosomal Diseases Come of Age, Tripeptidyl peptidase I, medicine.disease, CLN3, CLN8, Child, Preschool, Mutation, Thiolester Hydrolases, Neurology (clinical), Serine Proteases, Molecular Chaperones, Peptide Hydrolases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f31f0da56d8c366d76a3736341f5c25Test
https://doi.org/10.1111/j.1750-3639.2004.tb00500.xTest