LAD-1/variant syndrome is caused by mutations in FERMT3

Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting from a hematopoietic defect in integrin activation. In 7 consanguineous fami...

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Veröffentlicht in:	Blood Jg. 113; H. 19; S. 4740 - 4746
Hauptverfasser:	Kuijpers, Taco W, van de Vijver, Edith, Weterman, Marian A J, de Boer, Martin, Tool, Anton T J, van den Berg, Timo K, Moser, Markus, Jakobs, Marja E, Seeger, Karl, Sanal, Ozden, Unal, Sule, Cetin, Mualla, Roos, Dirk, Verhoeven, Arthur J, Baas, Frank
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States 07.05.2009
Schlagworte:	Antineoplastic Combined Chemotherapy Protocols - metabolism Blotting, Western Chromosome Mapping Cisplatin - metabolism Codon, Nonsense - genetics Cyclophosphamide - metabolism DNA Primers - chemistry Doxorubicin - metabolism Guanine Nucleotide Exchange Factors - genetics Homozygote Humans Leukocyte-Adhesion Deficiency Syndrome - genetics Membrane Proteins - genetics Neoplasm Proteins - genetics Nerve Tissue Proteins - genetics Platelet Activation Polymorphism, Single Nucleotide - genetics RNA Splicing
ISSN:	1528-0020
Online-Zugang:	Weitere Angaben
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