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

Restricted genetic defects underlie human complement C6 deficiency

24 Mar 2003

Abstract excerpt

Complement C6 homozygous deficiency (C6D) has been rarely observed in Caucasians but was reported at higher prevalence among African-Americans. We report on the molecular basis of C6D in seven unrelated black individuals of North or Central Africa descent who live in France. These patients have presented Neisseria meningitidis infection (four cases), focal and segmental glomerulosclerosis with hyalinosis (one...

Read the complete abstract on PubMed

Topics

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

Share to Blood groups and transfusion
Share to Complement system in diseases
Share to Renal Diseases and Glomerulopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12653841
DOI: 10.1046/j.1365-2249.2003.02099.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Restricted genetic defects underlie human complement C6 deficiencyPMID 12653841Read ↗

Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.Semantic proximity Read ↗

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

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

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement DeficienciesSemantic proximity Read ↗

Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosusSemantic proximity Read ↗

Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.Semantic proximity Read ↗

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

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.Semantic proximity Read ↗

Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.Semantic proximity Read ↗

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

Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases.Semantic proximity Read ↗

Clinical presentations and molecular basis of complement C1r deficiency in a male African–American patient with systemic lupus erythematosusSemantic proximity Read ↗

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