Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
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| Title: | Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy. |
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| Authors: | Bosco, Luca1,2 (AUTHOR), Leone, Daniela3 (AUTHOR), Costa Comellas, Laura4 (AUTHOR), Monforte, Mauro5 (AUTHOR), Pane, Marika3,6 (AUTHOR), Mercuri, Eugenio3,6 (AUTHOR), Bertini, Enrico1 (AUTHOR), D'Amico, Adele1 (AUTHOR), Fattori, Fabiana1 (AUTHOR) fabiana.fattori@opbg.net |
| Source: | International Journal of Molecular Sciences. Sep2022, Vol. 23 Issue 18, pN.PAG-N.PAG. 8p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 159299906 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Bosco%2C+Luca%22">Bosco, Luca</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Leone%2C+Daniela%22">Leone, Daniela</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Costa+Comellas%2C+Laura%22">Costa Comellas, Laura</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Monforte%2C+Mauro%22">Monforte, Mauro</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pane%2C+Marika%22">Pane, Marika</searchLink><relatesTo>3,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mercuri%2C+Eugenio%22">Mercuri, Eugenio</searchLink><relatesTo>3,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bertini%2C+Enrico%22">Bertini, Enrico</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22D'Amico%2C+Adele%22">D'Amico, Adele</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fattori%2C+Fabiana%22">Fattori, Fabiana</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> fabiana.fattori@opbg.net</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. Sep2022, Vol. 23 Issue 18, pN.PAG-N.PAG. 8p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=159299906 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/ijms231810274 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: N.PAG Titles: – TitleFull: Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bosco, Luca – PersonEntity: Name: NameFull: Leone, Daniela – PersonEntity: Name: NameFull: Costa Comellas, Laura – PersonEntity: Name: NameFull: Monforte, Mauro – PersonEntity: Name: NameFull: Pane, Marika – PersonEntity: Name: NameFull: Mercuri, Eugenio – PersonEntity: Name: NameFull: Bertini, Enrico – PersonEntity: Name: NameFull: D'Amico, Adele – PersonEntity: Name: NameFull: Fattori, Fabiana IsPartOfRelationships: – BibEntity: Dates: – D: 15 M: 09 Text: Sep2022 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 16616596 Numbering: – Type: volume Value: 23 – Type: issue Value: 18 Titles: – TitleFull: International Journal of Molecular Sciences Type: main |
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