ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.
Maurilia
M
Fiorini
Giovanna
G
Piovani
Richard F
RF
Schumacher
Chiara
C
Magri
Valeria
V
Bertini
Evelina
E
Mazzolari
Lucia
L
Notarangelo
Luigi D
LD
Notarangelo
Sergio
S
Barlati
D001324:Autoantigens / Q000235:genetics / Q000378:metabolism; D018821:CD18 Antigens / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D024041:Non-Fibrillar Collagens / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D000097805:Collagen Type XVII
D001324:Autoantigens; D018821:CD18 Antigens; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII