A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
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| Title: | A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. |
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| Authors: | Torraco, A.1, Bianchi, M.1, Verrigni, D.1, Gelmetti, V.2, Riley, L.3,4, Niceta, M.5, Martinelli, D.6, Montanari, A.7, Guo, Y.3, Rizza, T.1, Diodato, D.1, Di Nottia, M.1, Lucarelli, B.8, Sorrentino, F.9, Piemonte, F.1, Francisci, S.10, Tartaglia, M.5, Valente, E.M.11, Dionisi‐Vici, C.6, Christodoulou, J.3,4,12 |
| Source: | Clinical Genetics. Mar2017, Vol. 91 Issue 3, p441-447. 8p. 2 Graphs. |
| 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: 121443332 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=121443332 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.12790 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 441 Titles: – TitleFull: A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Torraco, A. – PersonEntity: Name: NameFull: Bianchi, M. – PersonEntity: Name: NameFull: Verrigni, D. – PersonEntity: Name: NameFull: Gelmetti, V. – PersonEntity: Name: NameFull: Riley, L. – PersonEntity: Name: NameFull: Niceta, M. – PersonEntity: Name: NameFull: Martinelli, D. – PersonEntity: Name: NameFull: Montanari, A. – PersonEntity: Name: NameFull: Guo, Y. – PersonEntity: Name: NameFull: Rizza, T. – PersonEntity: Name: NameFull: Diodato, D. – PersonEntity: Name: NameFull: Di Nottia, M. – PersonEntity: Name: NameFull: Lucarelli, B. – PersonEntity: Name: NameFull: Sorrentino, F. – PersonEntity: Name: NameFull: Piemonte, F. – PersonEntity: Name: NameFull: Francisci, S. – PersonEntity: Name: NameFull: Tartaglia, M. – PersonEntity: Name: NameFull: Valente, E.M. – PersonEntity: Name: NameFull: Dionisi‐Vici, C. – PersonEntity: Name: NameFull: Christodoulou, J. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: Mar2017 Type: published Y: 2017 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 91 – Type: issue Value: 3 Titles: – TitleFull: Clinical Genetics Type: main |
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