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A RECURRENT MISSENSE MUTATION (ARG-]GLN) AND A PARTIAL DELETION IN FACTOR-VIII GENE CAUSING SEVERE HEMOPHILIA-A
被引:13
作者
:
BERNARDI, F
论文数:
0
引用数:
0
h-index:
0
BERNARDI, F
VOLINIA, S
论文数:
0
引用数:
0
h-index:
0
VOLINIA, S
PATRACCHINI, P
论文数:
0
引用数:
0
h-index:
0
PATRACCHINI, P
GEMMATI, D
论文数:
0
引用数:
0
h-index:
0
GEMMATI, D
BONINSEGNA, S
论文数:
0
引用数:
0
h-index:
0
BONINSEGNA, S
SCHWIENBACHER, C
论文数:
0
引用数:
0
h-index:
0
SCHWIENBACHER, C
MARCHETTI, G
论文数:
0
引用数:
0
h-index:
0
MARCHETTI, G
机构
:
来源
:
BRITISH JOURNAL OF HAEMATOLOGY
|
1989年
/ 71卷
/ 02期
关键词
:
D O I
:
10.1111/j.1365-2141.1989.tb04266.x
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
引用
收藏
页码:271 / 276
页数:6
相关论文
共 24 条
[21]
VOGEL F, 1975, ADV HUM GENET, V5, P223
[22]
RECURRENT MUTATIONS IN HEMOPHILIA-A GIVE EVIDENCE FOR CPG MUTATION HOTSPOTS
YOUSSOUFIAN, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
YOUSSOUFIAN, H
KAZAZIAN, HH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
KAZAZIAN, HH
PHILLIPS, DG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
PHILLIPS, DG
ARONIS, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
ARONIS, S
TSIFTIS, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
TSIFTIS, G
BROWN, VA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
BROWN, VA
ANTONARAKIS, SE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
ANTONARAKIS, SE
[J].
NATURE,
1986,
324
(6095)
: 380
-
382
[23]
CHARACTERIZATION OF 5 PARTIAL DELETIONS OF THE FACTOR-VIII GENE
YOUSSOUFIAN, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
YOUSSOUFIAN, H
ANTONARAKIS, SE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
ANTONARAKIS, SE
ARONIS, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
ARONIS, S
TSIFTIS, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
TSIFTIS, G
PHILLIPS, DG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
PHILLIPS, DG
KAZAZIAN, HH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
KAZAZIAN, HH
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1987,
84
(11)
: 3772
-
3776
[24]
Mild Hemophilia A Associated with a Cryptic Donor Splice Site Mutation in Intron 4 of the Factor VIII Gene
Youssoufian, Hagop
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Youssoufian, Hagop
Kazazian, Haig H., Jr.
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Kazazian, Haig H., Jr.
Patel, Achyut
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Patel, Achyut
Aronis, Sophia
论文数:
0
引用数:
0
h-index:
0
机构:
1st Dept Pediat, Coagulat Lab, Athens, Greece
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Aronis, Sophia
Tsiftis, George
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Tsiftis, George
Hoyer, Leon W.
论文数:
0
引用数:
0
h-index:
0
机构:
Amer Red Cross Labs, Immunol Lab, Rockville, MD 20855 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Hoyer, Leon W.
Antonarakis, Snlianos E.
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Antonarakis, Snlianos E.
[J].
GENOMICS,
1988,
2
(01)
: 32
-
36
←
1
2
3
→
共 24 条
[21]
VOGEL F, 1975, ADV HUM GENET, V5, P223
[22]
RECURRENT MUTATIONS IN HEMOPHILIA-A GIVE EVIDENCE FOR CPG MUTATION HOTSPOTS
YOUSSOUFIAN, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
YOUSSOUFIAN, H
KAZAZIAN, HH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
KAZAZIAN, HH
PHILLIPS, DG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
PHILLIPS, DG
ARONIS, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
ARONIS, S
TSIFTIS, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
TSIFTIS, G
BROWN, VA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
BROWN, VA
ANTONARAKIS, SE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
ANTONARAKIS, SE
[J].
NATURE,
1986,
324
(6095)
: 380
-
382
[23]
CHARACTERIZATION OF 5 PARTIAL DELETIONS OF THE FACTOR-VIII GENE
YOUSSOUFIAN, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
YOUSSOUFIAN, H
ANTONARAKIS, SE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
ANTONARAKIS, SE
ARONIS, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
ARONIS, S
TSIFTIS, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
TSIFTIS, G
PHILLIPS, DG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
PHILLIPS, DG
KAZAZIAN, HH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE
KAZAZIAN, HH
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1987,
84
(11)
: 3772
-
3776
[24]
Mild Hemophilia A Associated with a Cryptic Donor Splice Site Mutation in Intron 4 of the Factor VIII Gene
Youssoufian, Hagop
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Youssoufian, Hagop
Kazazian, Haig H., Jr.
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Kazazian, Haig H., Jr.
Patel, Achyut
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Patel, Achyut
Aronis, Sophia
论文数:
0
引用数:
0
h-index:
0
机构:
1st Dept Pediat, Coagulat Lab, Athens, Greece
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Aronis, Sophia
Tsiftis, George
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Tsiftis, George
Hoyer, Leon W.
论文数:
0
引用数:
0
h-index:
0
机构:
Amer Red Cross Labs, Immunol Lab, Rockville, MD 20855 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Hoyer, Leon W.
Antonarakis, Snlianos E.
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Johns Hopkins Univ Sch Med, Dept Pediat, Genet Unit, Baltimore, MD 21205 USA
Antonarakis, Snlianos E.
[J].
GENOMICS,
1988,
2
(01)
: 32
-
36
←
1
2
3
→