Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
Saved in:
| Title: | Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. |
|---|---|
| Authors: | Barbaro M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Kotajärvi M, Harper P, Floderus Y |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jan 16; Vol. 8, pp. 13. Date of Electronic Publication: 2013 Jan 16. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23324528 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Barbaro+M%22">Barbaro M</searchLink>; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Kotajärvi+M%22">Kotajärvi M</searchLink><br /><searchLink fieldCode="AU" term="%22Harper+P%22">Harper P</searchLink><br /><searchLink fieldCode="AU" term="%22Floderus+Y%22">Floderus Y</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2013 Jan 16; Vol. 8, pp. 13. <i>Date of Electronic Publication: </i>2013 Jan 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23324528 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/1750-1172-8-13 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 13 Titles: – TitleFull: Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Barbaro M – PersonEntity: Name: NameFull: Kotajärvi M – PersonEntity: Name: NameFull: Harper P – PersonEntity: Name: NameFull: Floderus Y IsPartOfRelationships: – BibEntity: Dates: – D: 16 M: 01 Text: 2013 Jan 16 Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 8 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
| ResultId | 1 |
