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A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.

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Bibliographic Details
Title: A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.
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
Description
ISSN:1573-4978
DOI:10.1007/s11033-025-11109-7