Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG)

PURPOSE: Congenital disorders of glycosylation (CDG) are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that over 40% of CDG patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve mol...

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Hlavní autoři: Jones, Melanie A., Bhide, Shruti, Chin, Ephrem, Ng, Bobby G., Rhodenizer, Devin, Zhang, Victor W., Sun, Jessica J., Tanner, Alice, Freeze, Hudson H., Hegde, Madhuri R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398737/
https://ncbi.nlm.nih.gov/pubmed/21811164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e318226fbf2
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