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...

Whakaahuatanga katoa

Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Hōputu:	Tuhinga
Reo:	Ingarihi
I whakaputaina:	Philipps-Universität Marburg 2022
Ngā marau:	long amplicon sequencing genetic diagnosis heredita Medizin LDL receptor familial hypercholesterolemia oxford nanopore sequencing rapid genetic testing Medical sciences Medicine
Urunga tuihono:	Kuputuhi katoa PDF
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!