Articles with "missense exon" as a keyword



AB0574 A MONOGENIC DISEASE WITH WIDE RANGE OF SYMPTOMS: DEFICIENCY OF ADENOSINE DEAMINASE 2

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Published in 2019 at "Annals of the Rheumatic Diseases"

DOI: 10.1136/annrheumdis-2019-eular.584

Abstract: Background Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by ADA2 mutations. Objectives We aimed to investigate the characteristics of DADA2 patients along with the ADA2 enzyme levels. Methods 24… read more here.

Keywords: missense exon; none declared; none; dada2 patients ... See more keywords