Cargando…
Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next‐generation sequencing‐based laboratory‐developed screening test
BACKGROUND: This study was to reveal the prevalence of definite familial hypercholesterolemia (FH) in the hospital‐visiting population, determine the pathogenic mutation detection rate in clinically diagnosed definite FH patients, and expand the FH mutation spectrum in China. METHODS: Blood lipid pr...
Autores principales: | Jingxin, Shan, Shitong, Cheng |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747561/ https://www.ncbi.nlm.nih.gov/pubmed/36226792 http://dx.doi.org/10.1002/mgg3.2070 |
Ejemplares similares
-
The genetic spectrum of familial hypercholesterolemia in Pakistan
por: Ahmed, Waqas, et al.
Publicado: (2013) -
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland
por: Sharifi, Mahtab, et al.
Publicado: (2016) -
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population
por: Fairoozy, R. H., et al.
Publicado: (2017) -
Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis
por: Cao, Ye-Xuan, et al.
Publicado: (2021) -
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation
por: Sun, Di, et al.
Publicado: (2018)