Hematologically important mutations: Leukocyte adhesion deficiency (first update)

Blood Cells, Molecules, and Diseases

Volumn 48, Issue 1, 2012, Pages 53-61

  van de Vijver, Edith ^a   Maddalena, Anne ^b   Sanal, Özden ^c   Holland, Steven M ^d   Uzel, Gulbu ^d   Madkaikar, Manisha ^e   de Boer, Martin ^a   van Leeuwen, Karin ^a   Köker, M Yavuz ^f   Parvaneh, Nima ^g   Fischer, Alain ^h   Law, S K Alex ⁱ   Klein, Nigel ^j   Tezcan, F Ilhan ^c   Unal, Ekrem ^f   Patiroglu, Turkan ^f   Belohradsky, Bernd H ^k   Schwartz, Klaus ^l   Somech, Raz ^m   Kuijpers, Taco W ^a   Roos, Dirk ^a   more..

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b GENEDX   (United States)

^c HACETTEPE UNIVERSITY   (Turkey)

^d NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^e KEM HOSPITAL   (India)

^f ERCIYES UNIVERSITY   (Turkey)

^g TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^l UNIVERSITY HOSPITAL ULM   (Germany)

^m Edmond and Lily Safra Children's Hospital   (Israel)

more..

Author keywords

Integrins; GDP fucose transporter; Kindlin 3; LAD I; LAD II; LAD III

Indexed keywords

BETA2 INTEGRIN; BETA2 INTEGRIN BETA SUBUNIT; BLOOD GROUP ANTIGEN; BLOOD GROUP ANTIGEN LEWIS; BLOOD GROUP H ANTIGEN; CARRIER PROTEIN; CELL PROTEIN; FERMITIN FAMILY HOMOLOGY 3; GUANOSINE DIPHOSPHATE FUCOSE TRANSPORTER; KINDLIN 3 PROTEIN; PROTEIN; SELECTIN; UNCLASSIFIED DRUG;

ARTICLE; BACTERIAL INFECTION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C; FERMT3 GENE; FUCOSYLATION; GENE; GENE DELETION; GENE MUTATION; GOLGI COMPLEX; HUMAN; ITGB2 GENE; LEUKOCYTE ADHESION DEFICIENCY; LEUKOCYTE ADHESION DEFICIENCY I; MISSENSE MUTATION; NEUTROPHILIA; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN EXPRESSION; SLC35C1 GENE; THROMBOCYTE DYSFUNCTION; UMBILICAL CORD; WOUND HEALING IMPAIRMENT;

ANTIGENS, CD18; CELL ADHESION; CHILD, PRESCHOOL; GOLGI APPARATUS; HUMANS; INFANT, NEWBORN; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; LEUKOCYTES; MEMBRANE PROTEINS; MONOSACCHARIDE TRANSPORT PROTEINS; NEOPLASM PROTEINS; NEUTROPHILS; PROTEIN CONFORMATION;

BACTERIA (MICROORGANISMS);

EID: 84855200941     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2011.10.004     Document Type: Article

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