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Article

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

28 Feb 2000

Abstract excerpt

The clinical findings of a kindred with an X-linked disorder are characterized by autoimmune polyendocrinopathy, enteropathy with villous atrophy, chronic dermatitis, and variable immunodeficiency. Linkage analysis was performed on 20 members of the affected kindred to determine the location of the responsible locus. Informative recombinations limited the region to an approximate 20 cM interval bordered by...

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PMID: 10706361
DOI: 10.1002/(sici)1096-8628(20000228)90:5<390::aid-ajmg9>3.0.co;2-m

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