ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency
about
Advances in basic and clinical immunology in 2009The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients.Hematologically important mutations: leukocyte adhesion deficiency (first update).De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.
P2860
ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency
description
im Dezember 2009 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 December 2009
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2009
@uk
name
ITGB2 mutation combined with d ...... leukocyte adhesion deficiency
@en
ITGB2 mutation combined with d ...... leukocyte adhesion deficiency
@nl
type
label
ITGB2 mutation combined with d ...... leukocyte adhesion deficiency
@en
ITGB2 mutation combined with d ...... leukocyte adhesion deficiency
@nl
prefLabel
ITGB2 mutation combined with d ...... leukocyte adhesion deficiency
@en
ITGB2 mutation combined with d ...... leukocyte adhesion deficiency
@nl
P2093
P1476
ITGB2 mutation combined with d ...... leukocyte adhesion deficiency
@en
P2093
Evelina Mazzolari
Lucia Notarangelo
Luigi D Notarangelo
Maurilia Fiorini
Richard F Schumacher
Sergio Barlati
Valeria Bertini
P304
P356
10.1016/J.JACI.2009.07.058
P407
P577
2009-12-01T00:00:00Z