Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.L149P
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ITGB2

NM_000211.5:p.L149P

Associated Papers

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

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

Roos D et al.

Experimental Hematology, 2002

Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

Fathallah DM et al.

Journal of Biomedicine & Biotechnology, 2001

Molecular characterization of leukocyte adhesion deficiency in six patients.

Wright AH et al.

European Journal of Immunology, 1995

An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.

Sligh JE et al.

The Journal of Biological Chemistry, 1992

Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.

Wardlaw AJ et al.

The Journal of Experimental Medicine, 1990

Genetic and immunological assessment of a bone marrow transplantation in a patient with a primary immune defect: leukocyte adhesion deficiency.

Jamal T et al.

Archives De L'institut Pasteur De Tunis, 0

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