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Updated: Jun 6, 2025

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在VPS13A中的新型双同义异声变体影响mRNA分割:案例报告

Rebecca Hui Min Hoe1, Yi Zhao1, Helen Lisa Ong1

  • 1From the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.

Neurology. Genetics
|November 26, 2024
PubMed
概括

胆 - 胆细胞 (ChAc) 与VPS13A基因中的新同名变异有关,该变异破坏了mRNA拼接. 这一发现扩大了已知ChAc.Ac的遗传原因.

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