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Article

Registries of immunodeficiency patients and mutations.

Human mutation - 1 Jan 1997

Lappalainen I, Ollila J, Smith C I, Vihinen M

Abstract excerpt

Immunodeficiencies form a distinct group of human hereditary diseases with several rare disorders. During recent years, information has been collected concerning immunodeficiency patients and mutations causing disorders. The large European (ESID) registry contains clinical data for some 7,000 patients. At present, international mutation databases have information for > 1,000 immunodeficiency patients, including...

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PMID: 9338579
DOI: 10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K

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