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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.
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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  Data: Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.
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  Data: <searchLink fieldCode="AU" term="%22Bird+M%22">Bird M</searchLink>; Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK. mbird@sgul.ac.uk.<br /><searchLink fieldCode="AU" term="%22Tung+CJ%22">Tung CJ</searchLink>; Neuroscience and Cell Biology Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Pittman+AM%22">Pittman AM</searchLink>; Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Behr+ER%22">Behr ER</searchLink>; Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Nohturfft+A%22">Nohturfft A</searchLink>; Neuroscience and Cell Biology Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Futema+M%22">Futema M</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 522-527. <i>Date of Electronic Publication: </i>2025 Jul 24.
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        Value: 10.1038/s41431-025-01893-y
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              Text: 2026 Apr
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