Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
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DOI: 10.1002/mgg3.1131
Abstract: This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). read more here.
Keywords: families retinitis; application targeted; targeted panel; retinitis pigmentosa ... See more keywords
Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country
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DOI: 10.5551/jat.ed139
Abstract: Familial hypercholesterolemia (FH; OMIM #143890) is characterized by a clinical triad of primary hyper-LDL-cholesterolemia, tendon xanthomas, and premature atherosclerotic cardiovascular disease (ASCVD). Recently, researchers around the world, including ourselves, have shown that the prevalence of… read more here.
Keywords: familial hypercholesterolemia; world; hypercholesterolemia; among patients ... See more keywords