Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases - Nanthapisal, Sira; Murphy, Claire; Omoyinmi, Ebun; Hong, Ying; Standing, Ariane; Berg, Stefan; Ekelund, Maria; Jolles, Stephen; Harper, Lorraine; Youngstein, Taryn; Gilmour, Kimberly; Klein, Nigel J.; et al. (Arthritis & rheumatology (Hoboken, N.J.), 2016)
Keywords: ada2; Adenosine Deaminase - deficiency; Adenosine Deaminase - genetics; Adolescent; Adult; Child; Child, Preschool; Clinical Medicine; Enzymes; Female; Genotype; Genotype & phenotype; Humans; Intercellular Signaling Peptides and Proteins - deficiency; Intercellular Signaling Peptides and Proteins - genetics; Klinisk medicin; Male; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - drug therapy; Metabolism, Inborn Errors - genetics; Mutation; Pedigree; Phenotype; Rheumatology; vasculopathy; Young Adult