Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01568-x.pdf
Reference15 articles.
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2. Brown G (2014) Defects of thiamine transport and metabolism [J]. J Inherit Metab Dis 37(4):577–585
3. Bugiardini E, Pope S, Feichtinger RG, Poole OV, Pittman AM, Woodward CE, Heales S, Quinlivan R, Houlden H, Mayr JA, Hanna MG, Pitceathly RDS (2019) Utility of whole blood thiamine pyrophosphate evaluation in TPK1-related diseases. J Clin Med 8:991
4. Fernández-Marmiesse A, Gouveia S, Couce ML (2018) NGS technologies as a turning point in rare disease research. Diagnosis and Treatment Current Medicinal Chemistry 25(3):404–432
5. Frank RAW, Leeper FJ, Luisi BF (2007) Structure, mechanism and catalytic duality of thiamine-dependent enzymes [J]. Cell Mol Life Sci 64(7–8):892–905
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