| 1 | ITGB2, LAD1
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| A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1.
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| Bernard Cher TH, Chan HS, Klein GF, Jabkowski J, Schadenböck-Kranzl G, Zach O, Roca X, Law SK.
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| Biochem Biophys Res Commun 404(4):1099-104. Epub 2010 Dec 31.
2011
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| 2 | LAD1, ITGB2
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| Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations.
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| Roos D, Meischl C, de Boer M, Simsek S, Weening RS, Sanal O, Tezcan I, Gungor T, Law SK.
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| Exp Hematol 30(3):252-61. 2002
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| 3 | ITGB2, LAD1
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| Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component.
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| Motoki K, Megahed M, LaForgia S, Uitto J.
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| Genomics 39 : 323-330. 1997
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| 4 | LAD1
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| Familial genetic defect in a case of leukocyte adhesion deficiency.
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| Ohashi Y, et al.
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| Hum Mutat 2 : 458-467. 1993
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| 5 | LAD1, ITGB2
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| A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.
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| Back AL, et al.
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| Biochem Biophys Res Commun 193 : 912-918. 1993
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| 6 | ITGB2, LAD1
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| Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta2 integrins.
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| Nelson C, et al.
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| J Biol Chem 267 : 3351-3357. 1992
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| 7 | ITGB2, LAD1
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| An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.
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| Sligh JE, et al.
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| J Biol Chem 267 : 714-718. 1992
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| 8 | ITGB2, LAD1
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| Leukocyte adhesion deficiency : identification of novel mutations in two Japanese Patients with a severe form.
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| Matsuura S, et al.
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| Biochem Biophys Res Commun 184 : 1460-1467. 1992
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| 9 | ITGB2, LAD1
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| Molecular basis for a severe case of leucocyte adhesion deficiency.
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| Corbi AL, et al.
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| Eur J immunol 22 : 1877-1881. 1992
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