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Article

Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.

Journal of investigative medicine high impact case reports - 1 Jan 2000

Albalawi Reem, Hanafy Ehab, Alnafea Haifa, Altowijiry Mohammed, Riyad Shaima, Abufara Fadwa, Albolowi Naif

Abstract excerpt

Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure red cell aplasia (PRCA) and neutropenia. An autoinflammatory disorder known as deficiency of adenosine deaminase 2 (DADA2) has been recently noticed to present with...

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Identifiers

PMID: 34845942
DOI: 10.1177/23247096211056770
PMCID: PMC8637373

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