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Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.
Hsueh, Hsueh Wen; Kao, Hsiao-Jung; Chao, Chi-Chao; Hsueh, Sung-Ju; Huang, Yu-Ning; Lin, Wan-Jia; Su, Jen-Ping; Shy, Horng-Tzer; Yeh, Ti-Yen; Lin, Cheng-Chen; Kwok, Pui-Yan; Lee, Ni-Chung; Hsieh, Sung-Tsang.
Affiliation
  • Hsueh HW; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Kao HJ; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Chao CC; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Hsueh SJ; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Huang YN; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Lin WJ; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Su JP; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Shy HT; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Yeh TY; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Lin CC; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Kwok PY; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Lee NC; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
  • Hsieh ST; From the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; D
Neurol Genet ; 9(4): e200078, 2023 Aug.
Article in En | MEDLINE | ID: mdl-37346931
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Qualitative_research Language: En Journal: Neurol Genet Year: 2023 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Qualitative_research Language: En Journal: Neurol Genet Year: 2023 Document type: Article