Associated Papers
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
Balduit A et al.
Frontiers in Immunology, 2023
Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants: A case report.
Kageyama M et al.
Medicine, 2021
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
31440263 (PubMed )
Supplement: Table_1.DOCX
Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.
Kang HJ et al.
Journal of Clinical Immunology, 2006
Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.
Ki CS et al.
Journal of Korean Medical Science, 2005
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