Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis

BACKGROUND: Homozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low‐density lipoprotein (LDL) cholesterol in affected individuals. It is usually caused by homozygous or compound heterozygous functional mutations in the LDL rece...

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Detalles Bibliográficos
Autores principales: Wong, Karen H.Y., Levy‐Sakin, Michal, Ma, Walfred, Gonzaludo, Nina, Mak, Angel C.Y., Vaka, Dedeepya, Poon, Annie, Chu, Catherine, Lao, Richard, Balamir, Melek, Grenville, Zoe, Wong, Nicolas, Kane, John P., Kwok, Pui‐Yan, Malloy, Mary J., Pullinger, Clive R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900368/
https://www.ncbi.nlm.nih.gov/pubmed/31617323
http://dx.doi.org/10.1002/mgg3.1007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900368/
https://www.ncbi.nlm.nih.gov/pubmed/31617323
http://dx.doi.org/10.1002/mgg3.1007

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