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Article

Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.

Journal of clinical immunology - 1 Mar 2006

Kang Hee Jung, Ki Chang-Seok, Kim Yeon-Sook, Hur Mina, Jang So Ick, Min Ki Sik

Abstract excerpt

Complement C7 deficiency is associated with increased susceptibility to meningococcal infection. The genetic alterations of C7 deficiency are known to be sporadic and heterogeneous worldwide. We investigated molecular basis of C7 deficiency in two unrelated Korean families, in which the index cases suffered from meningococcal meningitis. Exon-specific PCR and direct sequencing of the C7 gene revealed two...

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PMID: 16552475
DOI: 10.1007/s10875-006-9006-6

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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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