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Article

A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency.

Journal of human genetics - 1 Jan 1999

Horiuchi T, Ferrer J M, Serra P, Matamoros N, López-Trascasa M, Hashimura C, Niho Y

Abstract excerpt

Deficiency of the seventh component of complement (C7D) is frequently associated with recurrent neisserial infections. We report in the present study the genetic basis for C7D in a Spanish family. We used exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis as a screening step for mutations, followed by direct sequencing of the target exon. The mutation in the...

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Share to Complement C7
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10319591
DOI: 10.1007/s100380050146

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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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