Gene: [01q23/AT3] antithrombin III (heparin cofactor I); thrombophilia (antithrombin III deficiency); [HCF1 ]


REF

PAT,MUT,MOL "Aiach &: Brit J Haematol, 66, 515-522, 1987
PAT,MUT,MOL "Barbui &: Brit J Haematol, 54, 561-565, 1983
LOC,LIN "Bishop &: CCG, 32, (HGM6), 255, 1982
LOC,LIN "Bishop &: AJHG, 30, A48, 1978
PAT,MUT,MOL "Bock SC, Prochownik: Blood, 70, N5, 1273-1278, 1987
PAT,MUT,MOL "Bock SC &: AJHG, 37, N1, 32-41, 1985a
LOC,PRO "Bock SC &: CCG, 39, 67-69, 1985b
COD,SEQ,EXP "Bock SC &: NAR, 10, 8113-8126, 1982
PAT,MUT,MOL "Boyer &: Thromb Haemost, 56, 18-22, 1986
PAT,MUT,MOL "Brunel &: Am J Hematol, 25, 223-224, 1987
PEP,SEQ,EVO "Chandra T &: Biochemistry, 22, N22, 5055-5061, 1983a
COD,SEQ,EXP "Chandra T &: PNAS, 80, (Apr), 1845-1848, 1983b
REV,PHE,FOG,TER "Cosgriff &: Medicine, 62, 209-220, 1983
PAT,MUT,MOL "Daly &: Brit J Haematol, 65, 457-462, 1987
PAT,MUT,MOL "Duchange &: Thromb Res, 45, 115-121, 1987
PAT,MUT,MOL "Duchange &: NAR, 14, 2408, 1986
PAT,MUT,MOL "Egeberg O: Scand J Clin Lab Invest, 17, 92, 1965a
PAT,MUT,MOL "Egeberg O: Thromb Diath Haemorrah, 13, 516-530, 1965b
PAT,MUT,MOL "Fischer &: Thromb Haemost, 55, 218-221, 1986
PAT,MUT,MOL "Girolami &: Acta Haematol, 72, 73-82, 1984
PAT,MUT,MOL "Girolami &: Blut, 47, 93-103, 1983
REV,PHE,FOG,TER "Halal &: Am J Med Genet, 14, 737-750, 1983
GEN,STR,EXP,EVO "Jagd S &: FEBS Lett, 193, N2, 213-216, 1985
LOC,PRO "Kao FT &: CCG, 37, (HGM7), 505, 1984a
LOC,PRO "Kao FT &: Hum Genet, 67, 34-36, 1984b
PAT,MUT,MOL "Knot &: Blood, 67, 93-98, 1986
PAT,MUT,MOL "Koide T &: PNAS, 81, 289-293, 1984
PAT,MUT,MOL "Lane &: Brit J Haematol, 71, 91-96, 1989
PAT,MUT,MOL "Lane &: Brit J Haematol, 65, 451-456, 1987a
PAT,MUT,MOL "Lane &: Brit J Haematol, 66, 523-527, 1987b
PAT,MUT,MOL "Leone &: Brit J Haematol, 65, 187-191, 1987
POL,PRO "LePaslier &: Vox Sang, 49, 168-170, 1985
LOC,LIN "Magenis RE &: CCG, 22, (HGM4), 327-329, 1978
LOC,LIN "Middleton-Price &: CCG, 46, (HGM9), 662, 1987
REV,PHE,FOG,TER "Nelson &: Obstet Gynecol, 65, 848-853, 1985
PAT,MUT,MOL "Owen &: Blood, 69, 1275-1279, 1987
LOC,LIN "Pakstis &: CCG, 51, (HGM10), 1057, 1989
LOC,LIN "Pakstis &: AJHG, 41, A180, 1987
PAT,MUT,MOL "Peterson CB, Blackburn: JBC, 260, 610-615, 1985
GEN,STR,EXP,EVO "Prochownik EV &: JBC, 260, N17, 9608-9612, 1985a
GEN,STR,EXP,EVO "Prochownik EV: Nature, 316, 845-848, 1985b
COD,SEQ,EXP "Prochownik EV &: JBC, 258, N13, 8389-8394, 1983a
PAT,MUT,MOL "Prochownik EV &: New Engl J Med, 308, 1549-1552, 1983b
PAT,MUT,MOL "Sacks SH &: J Med Genet, 25, 20-24, 1988
PAT,MUT,MOL "Sakuragawa &: Thromb Res, 31, 305-317, 1983
PAT,MUT,MOL "Sambrano &: J Clin Invest, 77, 887-893, 1986
CAG,EAG "Seldin &: CCG, 51, (HGM10), 1077, 1989
PAT,MUT,MOL "Tengborn &: Scand J Haematol, 34, 412-416, 1985
LOC,LIN "Winter JH &: Ann Hum Genet, 46, 29-34, 1982a
REV,PHE,FOG,TER "Winter JH &: Quart J Med, 51, 373-395, 1982b
PAT,MUT,MOL "Wolf &: Brit J Haematol, 51, 285-295, 1982

KEY

hem, clot

CLA

coding, basic

LOC

01 q23

MIM

MIM: 107300

SYN

HCF1

Смотрите также:

  • Gene: [11q1/C1NH] complement component 1 inhibitor; hereditary angioneurotic edema, type II (HANE, C1 inhibitor deficiency); partial deficiency of complement component 4 (due to dysfunctional C1 inhibitor; MIM:120790); [HANE CINH ]