A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.
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| Title: | A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma. |
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| Authors: | Anjum I; Department of Biotechnology, Kinnaird College of Women, Lahore, Pakistan. Iram.anjum@kinnaird.edu.pk.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan. Iram.anjum@kinnaird.edu.pk., Aslam K; Department of Biotechnology, Kinnaird College of Women, Lahore, Pakistan., Jamil TM; Lahore General Hospital, Lahore, Pakistan., John M; Memorial Christian Hospital, Sialkot, Pakistan., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Eiberg H; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Hansen L; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark. |
| Source: | Molecular biology reports [Mol Biol Rep] 2025 Oct 25; Vol. 53 (1), pp. 11. Date of Electronic Publication: 2025 Oct 25. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41138003 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Anjum+I%22">Anjum I</searchLink>; Department of Biotechnology, Kinnaird College of Women, Lahore, Pakistan. Iram.anjum@kinnaird.edu.pk.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan. Iram.anjum@kinnaird.edu.pk.<br /><searchLink fieldCode="AU" term="%22Aslam+K%22">Aslam K</searchLink>; Department of Biotechnology, Kinnaird College of Women, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Jamil+TM%22">Jamil TM</searchLink>; Lahore General Hospital, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22John+M%22">John M</searchLink>; Memorial Christian Hospital, Sialkot, Pakistan.<br /><searchLink fieldCode="AU" term="%22Baig+SM%22">Baig SM</searchLink>; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Eiberg+H%22">Eiberg H</searchLink>; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hansen+L%22">Hansen L</searchLink>; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Tommerup+N%22">Tommerup N</searchLink>; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220403234%22">Molecular biology reports</searchLink> [Mol Biol Rep] 2025 Oct 25; Vol. 53 (1), pp. 11. <i>Date of Electronic Publication: </i>2025 Oct 25. – 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="%22Reidel%22">Reidel </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>0403234 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-4978 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203014851%22">03014851 </searchLink><i>NLM ISO Abbreviation: </i>Mol Biol Rep <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41138003 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s11033-025-11109-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 11 Titles: – TitleFull: A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Anjum I – PersonEntity: Name: NameFull: Aslam K – PersonEntity: Name: NameFull: Jamil TM – PersonEntity: Name: NameFull: John M – PersonEntity: Name: NameFull: Baig SM – PersonEntity: Name: NameFull: Eiberg H – PersonEntity: Name: NameFull: Hansen L – PersonEntity: Name: NameFull: Tommerup N IsPartOfRelationships: – BibEntity: Dates: – D: 25 M: 10 Text: 2025 Oct 25 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1573-4978 Numbering: – Type: volume Value: 53 – Type: issue Value: 1 Titles: – TitleFull: Molecular biology reports Type: main |
| ResultId | 1 |
