Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.
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| Title: | Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia. |
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| Authors: | Bird M; Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK. mbird@sgul.ac.uk., Tung CJ; Neuroscience and Cell Biology Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK., Pittman AM; Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK., Behr ER; Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK., Nohturfft A; Neuroscience and Cell Biology Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK., Futema M; Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK. mfutema@sgul.ac.uk.; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK. mfutema@sgul.ac.uk. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 522-527. Date of Electronic Publication: 2025 Jul 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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