Komplement-Komponente C9

Ichikawa E et al. (2001) Hereditary complement (C9) deficiency associated with dermatomyositis.

Kira R et al. (1998) Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.

Setién F et al. (1993) A physical map of the human complement component C6, C7, and C9 genes.

DiScipio RG et al. (1984) Nucleotide sequence of cDNA and derived amino acid sequence of human complement component C9.

Marazziti D et al. (1988) Relationships between the gene and protein structure in human complement component C9.

Rogne S et al. (1989) The gene for human complement C9 is on chromosome 5.

Shiver JW et al. (1986) The ninth component of human complement (C9). Functional activity of the b fragment.

Rogne S et al. (1991) The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.

Khajoee V et al. (2003) Founder effect of the C9 R95X mutation in Orientals.

Witzel-Schlömp K et al. (1998) Heterogeneity in the genetic basis of human complement C9 deficiency.

Horiuchi T et al. (1998) A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.

Hobart MJ et al. (1997) Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject.

Witzel-Schlömp K et al. (1997) The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.

Abbott C et al. (1989) The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction.

Zoppi M et al. (1990) Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe.

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

OMIM.ORG article

Orphanet article

NCBI article

Wikipedia Artikel