Načítá se...
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
Whole-genome sequencing is a potentially powerful tool for the diagnosis of genetic diseases. Here, we used sequencing-by-ligation to sequence the genome of an 11-month-old breast-fed girl with xanthomas and very high plasma cholesterol levels (1023 mg/dl). Her parents had normal plasma cholesterol...
Uloženo v:
| Hlavní autoři: | , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2010
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2957323/ https://ncbi.nlm.nih.gov/pubmed/20719861 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq352 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|