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