Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder, and a genetic analysis is important to make a definitive diagnosis. A comprehensive genetic analysis using next generation sequencing (NGS) and whole exome sequencing (WES) is feasible. However, the application of NGS in the...

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Detalles Bibliográficos
Autores principales: Okada, Hirofumi, Tada, Hayato, Nomura, Akihiro, Nohara, Atsushi, Okeie, Kazuyasu, Nozue, Tsuyoshi, Michishita, Ichiro, Takamura, Masayuki, Takemura, Hirofumi, Kawashiri, Masa-aki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9593155/
https://www.ncbi.nlm.nih.gov/pubmed/36184534
http://dx.doi.org/10.2169/internalmedicine.8989-21

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