Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C6-Mangel

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C3-Mangel
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

Vogler LB et. al. (1979) Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation of underlying immunologic mechanisms.

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2.

Tedesco F et. al. (1981) A lupus-like syndrome in a patient with deficiency of the sixth component of complement.

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3.

Würzner R et. al. (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

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4.

Hobart MJ et. al. (1993) A physical map of the C6 and C7 complement component gene region on chromosome 5p13.

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5.

Nishizaka H et. al. (1996) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.

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6.

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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7.

Zhu ZB et. al. (1998) Molecular defects leading to human complement component C6 deficiency in an African-American family.

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8.

Hobart MJ et. al. (1998) The molecular basis of C6 deficiency in the western Cape, South Africa.

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9.

Fukumori Y et. al. (1998) Terminal complement component deficiencies in Japan.

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10.

Reinitz E et. al. (1986) Arthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6).

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11.

Kernbaum S et. al. (1980) Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality.

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12.

Ellison RT et. al. (1983) Prevalence of congenital or acquired complement deficiency in patients with sporadic meningocococcal disease.

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13.

Leddy JP et. al. (1974) Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies.

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14.

Heusinkveld RS et. al. (1974) Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.

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15.

Raum D et. al. (1980) Genetic polymorphism of serum complement components in the chimpanzee.

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