Article
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2011
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
Abstract excerpt
PURPOSE: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and...
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