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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associatedExpand
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[2014 ESC Guidelines on the diagnosis and treatment of aortic diseases].
Authors/Task Force members: Raimund Erbel* (Chairperson) (Germany), Victor Aboyans* (Chairperson) (France), Catherine Boileau (France), Eduardo Bossone (Italy), Roberto Di Bartolomeo (Italy), HolgerExpand
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Diagnosis and management of aortic dissection.
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NARC-1/PCSK9 and Its Natural Mutants
The discovery of autosomal dominant hypercholesterolemic patients with mutations in the PCSK9 gene, encoding the proprotein convertase NARC-1, resulting in the missense mutations suggested a role inExpand
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UMD (Universal Mutation Database): A generic software to build and analyze locus‐specific databases
The human genome is thought to contain about 80,000 genes and presently only 3,000 are known to be implicated in genetic diseases. In the near future, the entire sequence of the human genome will beExpand
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Diagnosis and management of aortic dissection - Recommendations of the Task Force on Aortic Dissection, European Society of Cardiology
Page Preamble ..................................................................1642 Introduction.............................................................1643 Aortic wallExpand
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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopiaExpand
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Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome‐related disorders
Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys‐Dietz aortic aneurysm syndrome (LDS). InExpand
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Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndromeExpand
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Genetic heterogeneity of autosomal dominant hypercholesterolemia
Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated elevation of plasmatic low‐density lipoprotein cholesterol associated with high risk of premature cardiovascularExpand
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