TOPOLOGICALLY EQUIVALENT MUTATIONS CAUSING DYSFUNCTIONAL COAGULATION-FACTORS-VII ((294)ALA-]VAL) AND X((334)SER-]PRO)

被引：36

作者：

BERNARDI, F

CASTAMAN, G

REDAELLI, R

PINOTTI, M

LUNGHI, B

RODEGHIERO, F

MARCHETTI, G

机构：

[1] OSPED S BORTOLO,CTR REG STUDIO MALATTIE EMORRAG & TROMLOOTICHE,DIV EMATOL,VICENZA,ITALY

[2] OSPED MAGGIORE NIGUARDA,DIV EMATOL,MILAN,ITALY

来源：

关键词：

D O I：

10.1093/hmg/3.7.1175

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：1175 / 1177

页数：3

共 30 条

[1] AURELL L, 1977, THROMB RES, P595
[2] BAUER KA, 1990, BLOOD, V76, P731
[3] MOLECULAR ANALYSIS OF FACTOR-VII DEFICIENCY IN ITALY - A FREQUENT MUTATION (FVII-LAZIO) IN A REPEATED INTRONIC REGION
BERNARDI, F
PATRACCHINI, P
GEMMATI, D
FERRATI, M
ARCIERI, P
PAPACCHINI, M
REDAELLI, R
BAUDO, F
MARIANI, G
MARCHETTI, G
[J]. HUMAN GENETICS, 1993, 92 (05) : 446 - 450
[4] BERNARDI F, 1989, BLOOD, V73, P2123
[5] BERNARDI F, 1994, BRIT J HAEMATOL, V86, P410
[6] DESTEFANO V, 1988, BRIT J HAEMATOL, V69, P387
[7] HETEROGENEITY OF HEREDITARY AND ACQUIRED FACTOR-X DEFICIENCIES BY COMBINED IMMUNOCHEMICAL AND FUNCTIONAL ANALYSES
FAIR, DS
EDGINGTON, TS
[J]. BRITISH JOURNAL OF HAEMATOLOGY, 1985, 59 (02) : 235 - 248
[8] THE MOLECULAR-BASIS OF BLOOD-COAGULATION
FURIE, B
FURIE, BC
[J]. CELL, 1988, 53 (04) : 505 - 518
[9] HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS - 3RD EDITION, 1992
GIANNELLI, F
GREEN, PM
HIGH, KA
SOMMER, S
LILLICRAP, DP
LUDWIG, M
OLEK, K
REITSMA, PH
GOOSSENS, M
YOSHIOKA, A
BROWNLEE, GG
[J]. NUCLEIC ACIDS RESEARCH, 1992, 20 : 2027 - 2063
[10] GREEN F, 1991, THROMB HAEMOSTASIS, V65, P667