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...

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Detalles Bibliográficos
Autores principales: Rios, Jonathan, Stein, Evan, Shendure, Jay, Hobbs, Helen H., Cohen, Jonathan C.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957323/
https://www.ncbi.nlm.nih.gov/pubmed/20719861
http://dx.doi.org/10.1093/hmg/ddq352

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957323/
https://www.ncbi.nlm.nih.gov/pubmed/20719861
http://dx.doi.org/10.1093/hmg/ddq352

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