Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively o...

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Bibliografiske detaljer
Udgivet i:Intractable Rare Dis Res
Main Authors: Satoh, Jun-ichi, Yanaizu, Motoaki, Tosaki, Youhei, Sakai, Kenji, Kino, Yoshihiro
Format: Artigo
Sprog:Inglês
Udgivet: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2016
Fag:
Brief Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5116862/
https://ncbi.nlm.nih.gov/pubmed/27904822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01064
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