Gene: [02q13/PROC] protein C (serine protease destroying coagulation factors Va and VIIIa); thrombophilia, hereditary (recurrent venous thrombosis, protein C deficiency);
COM | Kato-1988, as well as HGM, indicates the localization q14-q21, which is less definite compared to localization indicated in Patracchini-1989 (q13-q14), although in both cases the in situ hybridization of DNA probes on chromosomes was used. The cause of this contradiction is unclear; q13 localization remains the most probable one." |
REL | GEM:14q321/PCI; GEM:00.0/PROCR. |
REF | PAT,MOL,MUT "Barbui &:
Lancet, 2, 819-819, 1984 CLO,SEQ,EXP "Beckmann RJ &: NAR, 13, 5233-5247, 1985 PAT,PHE,FOG "Broeckmans &: New Engl J Med, 309, 340-344, 1983 PAT,MOL,MUT "Clouse, Comp: New Engl J Med, 314, 1298-1304, 1986 PAT,PHE,FOG "Edwin &: Blood, 73, N3, 712-717, 1989 CLO,GEN,SEQ "Foster DC &: PNAS, 82, N14, 4673-4677, 1985 CLO,SEQ,EXP "Foster DC, Davie: PNAS, 81, (Aug), 4766-4770, 1984 PAT,PHE,FOG "Griffin &: J Clin Invest, 68, 1370-1373, 1981 PAT,PHE,FOG "Horellou &: Brit Med J, 289, 1285-1287, 1984 LOC,MOL,PRO "Kato A &: CCG, 47, 46-47, 1988 LOC,MOL "Long GL &: Somat Cell Mol Genet, 14, 93-98, 1988 MOP,GEN,EVO "Long GL: Cold Spring Harbor Symp, 51, 525-529, 1986 PAT,PHE,FOG "Mannucci, Vigano: Lancet, 2, 463-467, 1982 LOC,MOL "Naylor &: CCG, 46, (HGM9), 669, 1987 LOC,MOL "Patracchini P &: Hum Genet, 81, 191-192, 1989 CLO,GEN,SEQ "Plutzky J &: PNAS, 83, N3, 546-550, 1986 LOC,MOL "Rocchi M &: Hum Genet, 74, 30-33, 1986 LOC,MOL "Rocchi M &: CCG, 40, (HGM8), 734, 1985 PAT,MOL,MUT "Romeo G &: PNAS, 84, N9, 2829-2832, 1987 CLO,SEQ,EXP "Santamaria &: (in) Serono Symp Rev, N7, 296-298, 1985 |
SWI | SWISSPROT: P04070 |
KEY | hem, clot |
CLA | coding, basic |
LOC | 02 q13 |
MIM | MIM: 176860 |
EZN | ENZYME: 3.4.21.69 |
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