The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
Saved in:
| Title: | The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. |
|---|---|
| Authors: | Andersson, C.1, Floderus, Y., Wikberg, A., Lithner, F. |
| Source: | Scandinavian Journal of Clinical & Laboratory Investigation. 11/27/2000, Vol. 60 Issue 7, p643-648. 6p. 5 Charts, 2 Graphs. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
|---|---|
| Header | DbId: asn DbLabel: Academic Search Ultimate An: 4148555 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Andersson%2C+C%2E%22">Andersson, C.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Floderus%2C+Y%2E%22">Floderus, Y.</searchLink><br /><searchLink fieldCode="AR" term="%22Wikberg%2C+A%2E%22">Wikberg, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Lithner%2C+F%2E%22">Lithner, F.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Scandinavian+Journal+of+Clinical+%26+Laboratory+Investigation%22">Scandinavian Journal of Clinical & Laboratory Investigation</searchLink>. 11/27/2000, Vol. 60 Issue 7, p643-648. 6p. 5 Charts, 2 Graphs. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=4148555 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/003655100300054891 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 643 Titles: – TitleFull: The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Andersson, C. – PersonEntity: Name: NameFull: Floderus, Y. – PersonEntity: Name: NameFull: Wikberg, A. – PersonEntity: Name: NameFull: Lithner, F. IsPartOfRelationships: – BibEntity: Dates: – D: 27 M: 11 Text: 11/27/2000 Type: published Y: 2000 Identifiers: – Type: issn-print Value: 00365513 Numbering: – Type: volume Value: 60 – Type: issue Value: 7 Titles: – TitleFull: Scandinavian Journal of Clinical & Laboratory Investigation Type: main |
| ResultId | 1 |