Gene: [05p13/C9] complement component 9; complement component 9 deficiency;
PHE | The complement component 9 deficiency lacks marked clinical symptoms. It is usually found by chance during examination of patients suffered from another disease or patients' relatives (Lint-1980; Kusaba-1983)." |
REF | LOC,MOL "Abbott CA &: Genomics, 4, N4, 606-609, 1989 POL "Alvarez V &: Am J Med Genet, 55, N4, 408-413, 1995 LOC,LIN,POL "Coto E &: Immunogenetics, 33, N3, 184-187, 1991 PRO,COD,SEQ,MOP "DiScipio RG &: PNAS, 81, 7298-7302, 1984 MUT "Horiuchi T &: J Immunol, 160, N3, 1509-1513, 1998 MUT "Kira R &: Hum Genet, 102, N6, 605-610, 1998 PAT,PHE,FOG "Kusaba &: Jpn J Hum Genet, 28, 239-248, 1983 PAT,PHE,FOG "Lint &: J Immunol, 125, 2252-2257, 1980 SEQ,PEP,EVO "Marazziti D &: Biochemistry, 27, 6529-6534, 1988 FUN,STR,MOP "Ramm &: J Immunol, 134, N4, 2594-2599, 1985 LOC,LIN,MAP "Rogne S &: J Med Genet, 28, N9, 587-590, 1991a LOC,LIN,MAP "Rogne S &: CCG, 58, (HGM11), 1900-1901, 1991b PRO,POL "Rogne S &: NAR, 18, 3112, 1990 LOC,MOL "Rogne S &: Genomics, 5, 149-152, 1989 MAP "Setien F &: Immunogenetics, 38, N5, 341-344, 1993 FUN,STR,MOP "Shiver JW &: JBC, 261, N21, 9629-9636, 1986 FUN,STR,MOP "Stanley KK &: EMBO J, 6, N7, 1951-1957, 1987 GEN,MUT "Witzel-Schlomp K &: J Immunol, 158, N10, 5043-5049, 1997 |
SWI | SWISSPROT: P02748 |
KEY | imm, comp |
CLA | coding, basic |
LOC | 05 p13 |
MIM | MIM: 120940 |
