Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance

PURPOSE: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that manifests with fever, early-onset vasculitis, strokes, and hematologic dysfunction. This study aimed to identify disease-causing variants by conventional Sanger and whole exome sequencing in two families sus...

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Detaylı Bibliyografya
Yayımlandı:J Clin Immunol
Asıl Yazarlar: Schnappauf, Oskar, Zhou, Qing, Moura, Natalia Sampaio, Ombrello, Amanda K., Michael, Drew G., Deuitch, Natalie, Barron, Karyl, Stone, Deborah L., Hoffmann, Patrycja, Hershfield, Michael, Applegate, Carolyn, Bjornsson, Hans T., Beck, David B., Witmer, P. Dane, Sobreira, Nara, Wohler, Elizabeth, Chiorini, John A., Dalgard, Clifton L., Kastner, Daniel L., Aksentijevich, Ivona
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7416912/
https://ncbi.nlm.nih.gov/pubmed/32638197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-020-00817-3
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