Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-9-9
pubmed:abstractText
Leukocyte adhesion deficiency type 1 (LAD I) is an autosomal recessive disorder caused by mutations in the ITGB2 gene, encoding the beta2 integrin family. Severe recurrent infections, impaired wound healing, and periodontal diseases are the main features of disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1573-2592
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
756-60
pubmed:dateRevised
2011-5-5
pubmed:meshHeading
pubmed-meshheading:20549317-Amino Acid Sequence, pubmed-meshheading:20549317-Animals, pubmed-meshheading:20549317-Cytoskeletal Proteins, pubmed-meshheading:20549317-DNA Mutational Analysis, pubmed-meshheading:20549317-Disease Progression, pubmed-meshheading:20549317-Female, pubmed-meshheading:20549317-Follow-Up Studies, pubmed-meshheading:20549317-Gram-Negative Bacterial Infections, pubmed-meshheading:20549317-Humans, pubmed-meshheading:20549317-Infant, pubmed-meshheading:20549317-Iran, pubmed-meshheading:20549317-Leukocyte-Adhesion Deficiency Syndrome, pubmed-meshheading:20549317-Male, pubmed-meshheading:20549317-Molecular Sequence Data, pubmed-meshheading:20549317-Muscle Proteins, pubmed-meshheading:20549317-Mutation, pubmed-meshheading:20549317-Recurrence, pubmed-meshheading:20549317-Skin Ulcer, pubmed-meshheading:20549317-Umbilical Cord
pubmed:year
2010
pubmed:articleTitle
Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.
pubmed:affiliation
Infectious Disease Research Center, Tehran University of Medical Sciences, Tehran, Iran. nparvaneh@tums.ac.ir
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't