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Complement component C7

The C7 gene encodes a complement component involved in the membrane attack complex. Mutations cause complement C7 deficiency which may result in immunological abnormalities, predisposition to meningococcal infections in aprticular.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Complement C7 deficiency
C7
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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2.

Barroso S et al. (2006) Molecular defects of the C7 gene in two patients with complement C7 deficiency.

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3.

Barroso S et al. (2004) Complement component C7 deficiency in two Spanish families.

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4.

Hobart MJ et al. (1995) Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes.

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5.

Nakamura S et al. (1984) Genetic polymorphism of the seventh component of complement in a Japanese population.

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6.

Nishimukai H et al. (1986) Genetic polymorphism of the seventh component of complement: a new variant.

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7.

DiScipio RG et al. (1988) The structure of human complement component C7 and the C5b-7 complex.

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8.

Würzner R et al. (1990) C7*9, a new frequent C7 allele detected by an allotype-specific monoclonal antibody.

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9.

Würzner R et al. (1992) A novel protein polymorphism of human complement C7 detected by a monoclonal antibody.

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10.

Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

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11.

Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.

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12.

Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.

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13.

Eldridge PR et al. (1983) The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.

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14.

None (1984) Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.

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15.

Jeremiah SJ et al. (1990) The assignment of the genes coding for human complement components C6 and C7 to chromosome 5.

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16.

Hobart MJ et al. (1978) Inherited structural variation and linkage relationships of C7.

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17.

Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

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18.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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19.

NCBI article

NCBI 730 external link
20.

OMIM.ORG article

Omim 217070 external link
21.

Orphanet article

Orphanet ID 160112 external link
22.

Wikipedia article

Wikipedia EN (Complement_component_7) external link
Update: Aug. 14, 2020
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