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Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations.

Experimental hematology - 1 Mar 2002

Roos Dirk, Meischl Christof, de Boer Martin, Simsek Suat, Weening Ron S, Sanal Ozden, Tezcan Ilhan, Güngör Tayfun, Law S K Alex

Abstract excerpt

OBJECTIVE: The aim of this study was to analyze mutations in DNA from patients with leukocyte adhesion deficiency (LAD), an immunodeficiency caused by absence of the beta(2) subunit (CD18) of the leukocyte integrins LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), p150,95 (CD11c/CD18), and CR4 (CD11d/CD18). METHODS: We developed genomic DNA PCR sequencing to detect mutations not only in exons but also in introns. RESULTS:...

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PMID: 11882363
DOI: 10.1016/s0301-472x(01)00782-2

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