A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy.
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| Title: | A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy. |
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| Authors: | Chausova PA; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia., Ryzhkova OP; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia., Rudenskaya GE; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia., Chernykh VB; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia., Shchagina OA; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia. |
| Source: | Frontiers in genetics [Front Genet] 2021 Oct 29; Vol. 12, pp. 686800. Date of Electronic Publication: 2021 Oct 29 (Print Publication: 2021). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34777456 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Chausova+PA%22">Chausova PA</searchLink>; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ryzhkova+OP%22">Ryzhkova OP</searchLink>; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Rudenskaya+GE%22">Rudenskaya GE</searchLink>; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Chernykh+VB%22">Chernykh VB</searchLink>; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+OA%22">Shchagina OA</searchLink>; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+AV%22">Polyakov AV</searchLink>; Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of the Russian Federation, Moscow, Russia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2021 Oct 29; Vol. 12, pp. 686800. <i>Date of Electronic Publication: </i>2021 Oct 29 (<i>Print Publication: </i>2021). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34777456 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fgene.2021.686800 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 686800 Titles: – TitleFull: A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chausova PA – PersonEntity: Name: NameFull: Ryzhkova OP – PersonEntity: Name: NameFull: Rudenskaya GE – PersonEntity: Name: NameFull: Chernykh VB – PersonEntity: Name: NameFull: Shchagina OA – PersonEntity: Name: NameFull: Polyakov AV IsPartOfRelationships: – BibEntity: Dates: – D: 29 M: 10 Text: 2021 Oct 29 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 1664-8021 Numbering: – Type: volume Value: 12 Titles: – TitleFull: Frontiers in genetics Type: main |
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