First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
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| Title: | First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. |
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| Authors: | Belosevic, Adrian1 (AUTHOR), Minder, Anna-Elisabeth2,3 (AUTHOR), Gueuning, Morgan4 (AUTHOR), van Breemen, Franziska1,3 (AUTHOR), Thun, Gian Andri4 (AUTHOR), Mattle-Greminger, Maja P.4 (AUTHOR), Meyer, Stefan5 (AUTHOR), Baumer, Alessandra6 (AUTHOR), Minder, Elisabeth I.2,3 (AUTHOR), Schneider-Yin, Xiaoye1,3 (AUTHOR), Barman-Aksözen, Jasmin1,3 (AUTHOR) jasmin.barman@stadtspital.ch |
| Source: | Life (2075-1729). Sep2023, Vol. 13 Issue 9, p1889. 11p. |
| 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: 172411569 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=172411569 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/life13091889 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 1889 Titles: – TitleFull: First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Belosevic, Adrian – PersonEntity: Name: NameFull: Minder, Anna-Elisabeth – PersonEntity: Name: NameFull: Gueuning, Morgan – PersonEntity: Name: NameFull: van Breemen, Franziska – PersonEntity: Name: NameFull: Thun, Gian Andri – PersonEntity: Name: NameFull: Mattle-Greminger, Maja P. – PersonEntity: Name: NameFull: Meyer, Stefan – PersonEntity: Name: NameFull: Baumer, Alessandra – PersonEntity: Name: NameFull: Minder, Elisabeth I. – PersonEntity: Name: NameFull: Schneider-Yin, Xiaoye – PersonEntity: Name: NameFull: Barman-Aksözen, Jasmin IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: Sep2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 20751729 Numbering: – Type: volume Value: 13 – Type: issue Value: 9 Titles: – TitleFull: Life (2075-1729) Type: main |
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