Hirofumi Okada Hayato Tada Akihiro Nomura Atsushi Nohara Kazuyasu Okeie Tsuyoshi Nozue Ichiro Michishita Masayuki Takamura Hirofumi Takemura Masa-Aki Kawashiri
10.2169/internalmedicine.8989-21
Intern Med
2022;61(19):2883-2889.
familial hypercholesterolemia multiplex ligation-dependent probe amplification whole exome sequencing
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36184534/
Hyperlipoproteinemia Type II / diagnosis Hyperlipoproteinemia Type II / genetics Receptors, LDL / genetics
Hyperlipoproteinemia Type II / diagnosis Hyperlipoproteinemia Type II / genetics Receptors, LDL / genetics Case Reports Exome Sequencing / methods Genetic Testing / methods Heterozygote Humans Mutation Receptors, LDL
PMC9593155
36184534
Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia
2022