https://scholars.lib.ntu.edu.tw/handle/123456789/573362
標題: | Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2 | 作者: | Lee P.Y JIA-WEI HSU et al. |
關鍵字: | adenosine deaminase; adenosine deaminase 2; complementary DNA; glutamine; RNA; unclassified drug; ADA2 protein, human; adenosine deaminase; signal peptide; 3' untranslated region; adenosine deaminase deficiency; allele; Article; brain hemorrhage; case report; child; clinical article; congenital disorder of glycosylation; enzyme activity; exon; female; gene deletion; genetic analysis; genetic variability; glycosylation; heterozygosity; heterozygote; human; inflammation; livedo reticularis; maternal plasma; missense mutation; multiplex ligation dependent probe amplification; papule; preschool child; priority journal; protein expression; protein folding; protein function; protein processing; protein transport; RNA stability; Sanger sequencing; sequence alignment; site directed mutagenesis; stop codon; agammaglobulinemia; blood; genetics; mutation; severe combined immunodeficiency; Adenosine Deaminase; Agammaglobulinemia; Child, Preschool; Female; Glycosylation; Humans; Intercellular Signaling Peptides and Proteins; Mutation; Severe Combined Immunodeficiency | 公開日期: | 2018 | 卷: | 142 | 期: | 4 | 起(迄)頁: | 1363-136500000000 | 來源出版物: | Journal of Allergy and Clinical Immunology | URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85050317097&doi=10.1016%2fj.jaci.2018.05.038&partnerID=40&md5=6d04f47633713d048fca42943d1d57b7 https://scholars.lib.ntu.edu.tw/handle/123456789/573362 |
ISSN: | 916749 | DOI: | 10.1016/j.jaci.2018.05.038 |
顯示於: | 生化科學研究所 |
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