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Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
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- Maglio, Cristina, 1983 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Mancina, Rosellina Margherita (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Motta, Benedetta Maria (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Stef, Marianne (author)
- Palacios, Lourdes (author)
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- (creator_code:org_t)
- 2014-05-21
- 2014
- English.
- In: Journal of internal medicine. - : Wiley. - 1365-2796 .- 0954-6820. ; 276:4, s. 396-403
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- The aim of this study was to combine clinical criteria and next-generation sequencing (pyrosequencing) to establish a diagnosis of familial hypercholesterolaemia (FH).
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- familial hypercholesterolaemia; genetic diagnosis; LDL receptor; next-generation sequencing; pyrosequencing
Publication and Content Type
- ref (subject category)
- art (subject category)
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