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Article

Molecular characterization of three new mutations causing C5 deficiency in two non-related families.

Molecular immunology - 1 Jul 2009

López-Lera Alberto, Garrido Sofía, de la Cruz Rocío Mena, Fontán Gumersindo, López-Trascasa Margarita

Abstract excerpt

Deficiencies in complement components are rare diseases whose diagnosis is often underestimated. In addition, in only a few cases molecular studies have been carried out for the characterization of the underlying genetic defects. To date, studies involving C5-deficient patients are scarce. The aim of the present report is to characterize the biochemical and molecular complement deficiency in two non-related...

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PMID: 19414197
DOI: 10.1016/j.molimm.2009.03.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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