A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA : genetic and functional analyses
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:124 |
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| Enthalten in: |
Acta neurologica Belgica - 124(2024), 2 vom: 15. März, Seite 661-663 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Tian, Wotu [VerfasserIn] |
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| Links: |
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| Themen: |
DCTN1 protein, human |
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| Anmerkungen: |
Date Completed 27.03.2024 Date Revised 29.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1007/s13760-023-02368-x |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM36166639X |
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| 245 | 1 | 2 | |a A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA |b genetic and functional analyses |
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| 650 | 4 | |a Hypoventilation | |
| 650 | 4 | |a Insomnia | |
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