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

Molecular basis of hereditary C3 deficiency.

The Journal of clinical investigation - 1 Oct 1990

Botto M, Fong K Y, So A K, Rudge A, Walport M J

Abstract excerpt

Hereditary deficiency of complement component C3 in a 10-yr-old boy was studied. C3 could not be detected by RIA of serum from the patient. Segregation of C3 S and C3 F allotypes within the family confirmed the presence of a null gene for C3, for which the patient was homozygous. 30 exons have been characterized, spanning the entire beta chain of C3 and the alpha chain as far as the C3d region. Sequence analysis...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child
Share to Complement C3

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

Share to Mutation

Share to Polymerase Chain Reaction

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 2212005
DOI: 10.1172/JCI114821
PMCID: PMC296845

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

Molecular basis of hereditary C3 deficiency.PMID 2212005Read ↗

The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency.Semantic proximity Read ↗

Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters.Semantic proximity Read ↗

Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency.Semantic proximity Read ↗

Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.Semantic proximity Read ↗

Molecular basis of polymorphisms of human complement component C3.Semantic proximity Read ↗

Rare loss-of-function mutation in complement component C3 provides insight into molecular and pathophysiological determinants of complement activity.Semantic proximity Read ↗

Hereditary Deficiency of C3 in Animals and HumansSemantic proximity Read ↗

Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency.Semantic proximity Read ↗

Genetic basis of human complement C8 beta deficiency.Semantic proximity Read ↗

Molecular basis of hereditary C1q deficiency.Semantic proximity Read ↗

Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.Semantic proximity Read ↗

Deficiency of Human Complement Protein C4 Due to Identical Frameshift Mutations in the C4A and C4B GenesSemantic proximity Read ↗

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