Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency

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Veröffentlicht in:	Journal of clinical immunology 2019-11, Vol.39 (8), p.842-845
Hauptverfasser:	Chong-Neto, Herberto Jose, Segundo, Gesmar Rodrigues Silva, Bandeira, Márcia, Chong-Silva, Débora Carla, Rosário, Cristine Secco, Riedi, Carlos A., Hershfield, Michael S., Ochs, Hans, Torgerson, Troy, Rosário, Nelson Augusto
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Deaminase - deficiency Adenosine Deaminase - genetics Adenosine Deaminase - immunology Agammaglobulinemia - diagnosis Agammaglobulinemia - genetics Agammaglobulinemia - immunology Biomedical and Life Sciences Biomedicine Child Female Homozygote Humans Immunology Infectious Diseases Intercellular Signaling Peptides and Proteins - deficiency Intercellular Signaling Peptides and Proteins - genetics Internal Medicine Letter to Editor Loss of Function Mutation Medical Microbiology Mutation Point mutation RNA Splice Sites - genetics RNA Splicing - genetics RNA Splicing - immunology Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - immunology
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