Complement component 9 deficiency is caused by mutations of the C9 gene. If both alleles are altered C9 is undetectable in plasma. No liability to any specific disease is observed in such a condition. The clinical manifestations seem to be tempered in paroxysmal nocturnal hemoglobinuria with complement component 9 deficiency.
C9 deficiency has a frequency of about 2/1000 in Japan.[Error: Macro 'ref' doesn't exist]
1. |
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2. |
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3. |
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4. |
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5. |
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6. |
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7. |
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8. |
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9. |
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10. |
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11. |
Yonemura Y et al. (1990) Paroxysmal nocturnal haemoglobinuria with coexisting deficiency of the ninth component of complement: lack of massive haemolytic attack. |
12. |
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13. |
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14. |
OMIM.ORG article Omim 613825 |