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 bases for inherited human complement component C6 deficiency in two unrelated individuals.

Journal of immunology (Baltimore, Md. : 1950) - 15 Mar 1996

Nishizaka H, Horiuchi T, Zhu Z B, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs C G, Higuchi M, Yasunaga S, Niho Y, Volanakis J E

Abstract excerpt

Deficiency of the sixth component of complement (C6D) is frequently associated with recurrent neisserial infections, especially meningitis caused by Neisseria meningitidis. We here report the molecular bases of C6D in two unrelated subjects, one African American (case 1) and the other Japanese (case 2). Screening all 17 exons of the C6 gene and their boundaries by exon-specific PCR/single strand conformation...

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 Base Sequence

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

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8690922

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 bases for inherited human complement component C6 deficiency in two unrelated individuals.PMID 8690922Read ↗

Molecular defects leading to human complement component C6 deficiency in an African-American family.Semantic proximity Read ↗

Genetic bases of human complement C7 deficiency.Semantic proximity Read ↗

Restricted genetic defects underlie human complement C6 deficiencySemantic proximity Read ↗

Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.Semantic proximity Read ↗

Compound heterozygous mutations in the C6 gene of a child with recurrent infections.Semantic proximity Read ↗

A novel type II complement C2 deficiency allele in an African-American family.Semantic proximity Read ↗

The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.Semantic proximity Read ↗

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

A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.Semantic proximity Read ↗

The molecular basis of complete complement C4A and C4B deficiencies in a systemic lupus erythematosus patient with homozygous C4A and C4B mutant genes.Semantic proximity Read ↗

Novel Mutations Causing C5 Deficiency in Three North-African Families.Semantic proximity Read ↗

High prevalence of complement component C6 deficiency among African-Americans in the South-eastern USASemantic proximity Read ↗

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