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Genetic diagnosis o...
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)
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- Pirazzi, Carlo (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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Palacios, Lourdes (author)
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- Askaryar, Narwan (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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- Borén, Jan, 1963 (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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- Wiklund, Olov, 1943 (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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- Romeo, Stefano, 1976 (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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(creator_code:org_t)
- 2014-05-21
- 2014
- English.
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In: Journal of internal medicine. - : Wiley. - 1365-2796 .- 0954-6820. ; 276:4, s. 396-403
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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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- By the author/editor
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Maglio, Cristina ...
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Mancina, Roselli ...
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Motta, Benedetta ...
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Stef, Marianne
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Pirazzi, Carlo
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Palacios, Lourde ...
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Askaryar, Narwan
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Borén, Jan, 1963
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Wiklund, Olov, 1 ...
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Romeo, Stefano, ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
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Journal of inter ...
- By the university
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University of Gothenburg