NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
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| Title: | NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. |
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| Authors: | Wei Wen1, Dan Yin2,3, Fangfang Huang1, Meng Guo1, Tian Tian2,3, Hui Zhu2,3, Yun Yang2,3,4 yangyun@genomics.cn |
| Source: | BMC Medical Genetics. 2/3/2016, Vol. 17, p1-5. 5p. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 112745926 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12881-016-0273-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1 Titles: – TitleFull: NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Wei Wen – PersonEntity: Name: NameFull: Dan Yin – PersonEntity: Name: NameFull: Fangfang Huang – PersonEntity: Name: NameFull: Meng Guo – PersonEntity: Name: NameFull: Tian Tian – PersonEntity: Name: NameFull: Hui Zhu – PersonEntity: Name: NameFull: Yun Yang IsPartOfRelationships: – BibEntity: Dates: – D: 03 M: 02 Text: 2/3/2016 Type: published Y: 2016 Identifiers: – Type: issn-print Value: 14712350 Numbering: – Type: volume Value: 17 Titles: – TitleFull: BMC Medical Genetics Type: main |
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