Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2002-3-7
pubmed:abstractText
The aim of this study was to analyze mutations in DNA from patients with leukocyte adhesion deficiency (LAD), an immunodeficiency caused by absence of the beta(2) subunit (CD18) of the leukocyte integrins LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), p150,95 (CD11c/CD18), and CR4 (CD11d/CD18).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0301-472X
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
252-61
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed-meshheading:11882363-Alleles, pubmed-meshheading:11882363-Amino Acid Sequence, pubmed-meshheading:11882363-Animals, pubmed-meshheading:11882363-Antigens, CD11, pubmed-meshheading:11882363-Antigens, CD18, pubmed-meshheading:11882363-Base Sequence, pubmed-meshheading:11882363-COS Cells, pubmed-meshheading:11882363-Codon, Nonsense, pubmed-meshheading:11882363-Consanguinity, pubmed-meshheading:11882363-DNA Mutational Analysis, pubmed-meshheading:11882363-Female, pubmed-meshheading:11882363-Gene Deletion, pubmed-meshheading:11882363-Heterozygote, pubmed-meshheading:11882363-Homozygote, pubmed-meshheading:11882363-Humans, pubmed-meshheading:11882363-Introns, pubmed-meshheading:11882363-Leukocyte-Adhesion Deficiency Syndrome, pubmed-meshheading:11882363-Male, pubmed-meshheading:11882363-Mutation, pubmed-meshheading:11882363-Mutation, Missense, pubmed-meshheading:11882363-Polymerase Chain Reaction, pubmed-meshheading:11882363-RNA, Messenger, pubmed-meshheading:11882363-RNA Splicing, pubmed-meshheading:11882363-Transfection
pubmed:year
2002
pubmed:articleTitle
Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations.
pubmed:affiliation
Central Laboratory Netherlands Blood Transfusion Service (CLB) and Laboratory for Experimental and Clinical Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. d_roos@clb.nl
pubmed:publicationType
Journal Article, Case Reports