The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies.
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| Title: | The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies. |
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| Authors: | Ruskey, J. A.1,2, Zhou, S.3, Santiago, R.4, Franche, L.‐A.5,6, Alam, A.1, Roncière, L.7, Spiegelman, D.1,2, Fon, E. A.8, Trempe, J.‐F.9, Kalia, L. V.10, Postuma, R. B.11,12, Dupre, N.5,6, Rivard, G.‐E.13, Assouline, S.4, Amato, D.14, Gan‐Or, Z.1,2,15 ziv.gan-or@mcgill.ca |
| Source: | Clinical Genetics. Oct2018, Vol. 94 Issue 3/4, p339-345. 7p. 2 Diagrams, 4 Charts, 1 Graph. |
| 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: 131706036 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=131706036 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.13405 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 339 Titles: – TitleFull: The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ruskey, J. A. – PersonEntity: Name: NameFull: Zhou, S. – PersonEntity: Name: NameFull: Santiago, R. – PersonEntity: Name: NameFull: Franche, L.‐A. – PersonEntity: Name: NameFull: Alam, A. – PersonEntity: Name: NameFull: Roncière, L. – PersonEntity: Name: NameFull: Spiegelman, D. – PersonEntity: Name: NameFull: Fon, E. A. – PersonEntity: Name: NameFull: Trempe, J.‐F. – PersonEntity: Name: NameFull: Kalia, L. V. – PersonEntity: Name: NameFull: Postuma, R. B. – PersonEntity: Name: NameFull: Dupre, N. – PersonEntity: Name: NameFull: Rivard, G.‐E. – PersonEntity: Name: NameFull: Assouline, S. – PersonEntity: Name: NameFull: Amato, D. – PersonEntity: Name: NameFull: Gan‐Or, Z. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2018 Type: published Y: 2018 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 94 – Type: issue Value: 3/4 Titles: – TitleFull: Clinical Genetics Type: main |
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