טוען...
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia
Familial hypercholesterolemia (FH) is an autosomal dominant disorder. Although genetic testing is an important tool for detecting FH-causing mutations in patients, diagnostic methods for young patients with severe hypercholesterolemia are understudied. This study compares the target exome sequencing...
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| הוצא לאור ב: | Sci Rep |
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| Main Authors: | , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2016
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5103295/ https://ncbi.nlm.nih.gov/pubmed/27830735 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep36823 |
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