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Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation.

Clinical and experimental rheumatology - 1 Jan 2000

Lamprecht Peter, Humrich Jens Y, Diebold Isabel, Riemekasten Gabriela

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PMID: 29600946

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Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation.PMID 29600946Read ↗

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Update on CECR1 molecular diagnostics: new mutations in the deficiency of ADA2 (DADA2) and the North American polyarteritis nodosa (PAN) cohortSemantic proximity Read ↗

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