A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234502/
https://ncbi.nlm.nih.gov/pubmed/21712855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.126
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