A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy ; volume:11 ; number:5-6 ; year:2020 ; pages:264-270
Molecular syndromology ; 11, Heft 5-6 (2020), 264-270
- Creator
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Fitzgerald, Jamie
Feist, Cori
Dietz, Paula
Moore, Stephen
Basel, Donald
- DOI
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10.1159/000510286
- URN
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urn:nbn:de:101:1-2020122323354815793657
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:36 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Fitzgerald, Jamie
- Feist, Cori
- Dietz, Paula
- Moore, Stephen
- Basel, Donald
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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
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Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy
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Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition
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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
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A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant