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

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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Materyal Türü: Makale
Dil:İngilizce
Baskı/Yayın Bilgisi: Philipps-Universität Marburg 2022
Konular:
familial hypercholesterolemia
rapid genetic testing
Medizin
oxford nanopore sequencing
heredita
long amplicon sequencing
LDL receptor
genetic diagnosis
Medical sciences Medicine
Online Erişim:PDF Tam Metin
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Internet

PDF Tam Metin

Detaylı Erişim Bilgileri
Yer Numarası: urn:nbn:de:hebis:04-es2022-01413
Yayın Tarihi: 2022-08-31
Kaynak: Erstveröffentlichung: Soufi M, Bedenbender S, Ruppert V, Kurt B, Schieffer B and Schaefer JR (2022) Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia. Front. Genet. 13:836231. https://doi.org/10.3389/fgene.2022.836231
Downloads: 25 (2024), 38 (2023), 8 (2022)
Lizenz: https://creativecommons.org/licenses/by/4.0
Erişim Adresi URL: https://archiv.ub.uni-marburg.de/es/2022/0141
https://doi.org/10.3389/fgene.2022.836231

Benzer Materyaller