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Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families
European Journal of Pediatrics, 1992Three families are described with complement component deficiencies. In one family, five children had C5 deficiency; in a second family, two children had C8 deficiency and one child in a third family had C3 deficiency. The index cases were identified during screening of patients with recurrent pyogenic infections, recurrent meningitis and ...
O, Sanal +5 more
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The Journal of Immunology, 1993
Abstract Clusterin is a heterodimeric multifunctional protein expressed in a variety of tissues and cells. It forms high density lipid complexes in plasma and participates in the control of the lytic activity of the late complement complex (TCC, C5b-9).
J, Tschopp +3 more
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Abstract Clusterin is a heterodimeric multifunctional protein expressed in a variety of tissues and cells. It forms high density lipid complexes in plasma and participates in the control of the lytic activity of the late complement complex (TCC, C5b-9).
J, Tschopp +3 more
openaire +2 more sources
Human genetics, 1995
Human C8 is one of five complement components (C5b, C6, C7, C8, C9) that interact to form the cytolytic C5b-9 complex on target membranes. It is composed of three nonidentical subunits (C8 alpha, C8 beta, C8 gamma) encoded by separate genes. C8 alpha and C8 beta are linked on chromosome 1p32, whereas C8 gamma is located on 9q22.3-q32.
G A, Michelotti +2 more
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Human C8 is one of five complement components (C5b, C6, C7, C8, C9) that interact to form the cytolytic C5b-9 complex on target membranes. It is composed of three nonidentical subunits (C8 alpha, C8 beta, C8 gamma) encoded by separate genes. C8 alpha and C8 beta are linked on chromosome 1p32, whereas C8 gamma is located on 9q22.3-q32.
G A, Michelotti +2 more
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[Further study on heterogeneic basis of complement C8 beta deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2004In Caucasian population, the most common molecular basis for C8 beta deficiency s a single C to T transition in exon 9 of C8 beta gene resulting in a stop codon. In previous family studies, two individuals were identified with C8 beta complete deficiency and were found to be only heterozygous for this mutation.
Li, Rao +5 more
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4.2. Genetic polymorphism of complement component C8
Forensic Science International, 1983B. Mevåg +4 more
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Genomic organization of human complement protein C8? and further examination of its linkage to C8?
Human Genetics, 1995GregoryA. Michelotti +2 more
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Complosome — the intracellular complement system
Nature Reviews Nephrology, 2023Erin E West, Claudia Kemper
exaly

