Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

Souf, Muhidien; Bedenbender, Simon; Ruppert, Volker; Kurt, Bilgen; Schieffer, Bernhard; Schaefer, Juergen R.

Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant lipid metabolism disorder characterized by severely elevated plasma low-density lipoprotein cholesterol levels. The disease is caused by mutations in 3 genes (LDLR, APOB and PCSK9) while over 90% of the mutations are located within the L...

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主要な著者:	Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
フォーマット:	論文
言語:	英語
出版事項:	Philipps-Universität Marburg 2022
主題:	familial hypercholesterolemia rapid genetic testing Medizin oxford nanopore sequencing heredita long amplicon sequencing LDL receptor genetic diagnosis Medical sciences Medicine
オンライン･アクセス:	PDFフルテキスト
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Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

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