Article
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
European journal of human genetics : EJHG - 1 Jan 2012
Selmer Kaja K, Gilfillan Gregor D, Strømme Petter, Lyle Robert, Hughes Timothy, Hjorthaug Hanne S, Brandal Kristin, Nakken Sigve, Misceo Doriana, Egeland Thore, Munthe Ludvig A, Braekken Sigrun K, Undlien Dag E
Abstract excerpt
Next-generation sequencing (NGS) techniques have already shown their potential in the identification of mutations underlying rare inherited disorders. We report here the application of linkage analysis in combination with targeted DNA capture and NGS to a Norwegian family affected by an undiagnosed mental retardation disorder with an autosomal recessive inheritance pattern. Linkage analysis identified two loci on...
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