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

Ссылки: