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Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia
Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR). In providing a molecular diagnosis for FH, the current procedure often includes targeted next-generation sequencin...
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| Publicado no: | J Lipid Res |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society for Biochemistry and Molecular Biology
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5665663/ https://ncbi.nlm.nih.gov/pubmed/28874442 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.D079301 |
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