Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.

The Journal of experimental medicine - 1 Jul 1990

Wardlaw A J, Hibbs M L, Stacker S A, Springer T A

Abstract excerpt

Two patients with leukocyte adhesion deficiency (LAD), one with a moderate phenotype (patient 14) and one with a severe phenotype (patient 2) who had been shown to have a normal sized beta subunit protein precursor, were analyzed in an attempt to determine the molecular basis for their disease. RNase mapping located possible mutations to two distinct but adjacent regions of the beta subunit cDNA. Sequencing of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Antibodies, Monoclonal
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cell Line

Share to DNA Mutational Analysis

Share to Molecular Sequence Data

Share to Mutation

Share to Oligonucleotide Probes

Source

Open in PubMed Open full text

Identifiers

PMID: 1694220
DOI: 10.1084/jem.172.1.335
PMCID: PMC2188166

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.PMID 1694220Read ↗

Molecular characterization of leukocyte adhesion deficiency in six patients.Semantic proximity Read ↗

Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency.Semantic proximity Read ↗

Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.Semantic proximity Read ↗

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.Semantic proximity Read ↗

Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins.Semantic proximity Read ↗

Leukocyte adhesion deficiency syndromes: adhesion and tethering defects involving beta 2 integrins and selectin ligands.Semantic proximity Read ↗

Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations.Semantic proximity Read ↗

Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient.Semantic proximity Read ↗

Leukocyte adhesion deficiencies: molecular basis, clinical findings, and therapeutic options.Semantic proximity Read ↗

Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95.Semantic proximity Read ↗

Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1.Semantic proximity Read ↗

Demystified...adhesion molecule deficiencies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.