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Primary immunodeficiencies: novel genes and unusual presentations

Recent advances in genomics have greatly expanded the spectrum of primary immune deficiencies (PIDs). Along with the identification of pathogenic variants in novel genes, distinct phenotypes have been associated with different variants in the same gene. Although PIDs have been historically defined b...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hematology Am Soc Hematol Educ Program
Prif Awduron: Notarangelo, Luigi D., Uzel, Gulbu, Rao, V. Koneti
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society of Hematology 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913429/
https://ncbi.nlm.nih.gov/pubmed/31808899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/hematology.2019000051
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