Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.

Autor: Chamoieva AE; National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan., Mirmanova ZZ; National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan., Zhalbinova MR; National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan., Rakhimova SE; National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.; Eurasian Society of Personalized Medicine, Astana 010000, Kazakhstan., Daniyarov AZ; National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.; Faculty of Natural Sciences, L.N. Gumilyev, Eurasian National University, Astana 010008, Kazakhstan., Kairov UY; National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.; Eurasian Society of Personalized Medicine, Astana 010000, Kazakhstan., Baigalkanova AI; Corporate Fund 'University Medical Center', National Research Cardiac Surgery Center, Astana 010000, Kazakhstan., Mukarov MA; Corporate Fund 'University Medical Center', National Research Cardiac Surgery Center, Astana 010000, Kazakhstan., Bekbossynova MS; Corporate Fund 'University Medical Center', National Research Cardiac Surgery Center, Astana 010000, Kazakhstan., Akilzhanova AR; National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.; Eurasian Society of Personalized Medicine, Astana 010000, Kazakhstan.; Faculty of Natural Sciences, L.N. Gumilyev, Eurasian National University, Astana 010008, Kazakhstan.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Nov 05; Vol. 25 (22). Date of Electronic Publication: 2024 Nov 05.