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An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis
被引:34
作者
:
Somerville, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Somerville, MJ
[
1
]
Sprysak, KA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Sprysak, KA
[
1
]
Hicks, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Hicks, M
[
1
]
Elyas, BG
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Elyas, BG
[
1
]
Vicen-Wyhony, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
Vicen-Wyhony, L
[
1
]
机构
:
[1]
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
来源
:
AMERICAN JOURNAL OF HUMAN GENETICS
|
1999年
/ 65卷
/ 03期
关键词
:
D O I
:
10.1086/302550
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:924 / 926
页数:3
相关论文
共 5 条
[1]
Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis
[J].
Baty, D
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Baty, D
;
Kwiatkowski, AT
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Kwiatkowski, AT
;
Mechan, D
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Mechan, D
;
Harris, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Harris, A
;
Pippard, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Pippard, MJ
;
Goudie, D
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Goudie, D
.
JOURNAL OF CLINICAL PATHOLOGY,
1998,
51
(01)
:73
-74
[2]
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
[J].
Bulaj, ZJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Bulaj, ZJ
;
Griffen, LM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Griffen, LM
;
Jorde, LB
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Jorde, LB
;
Edwards, CQ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Edwards, CQ
;
Kushner, JP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Kushner, JP
.
NEW ENGLAND JOURNAL OF MEDICINE,
1996,
335
(24)
:1799
-1805
[3]
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
[J].
Feder, JN
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Feder, JN
;
Gnirke, A
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Gnirke, A
;
Thomas, W
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Thomas, W
;
Tsuchihashi, Z
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Tsuchihashi, Z
;
Ruddy, DA
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Ruddy, DA
;
Basava, A
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Basava, A
;
Dormishian, F
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Dormishian, F
;
Domingo, R
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Domingo, R
;
Ellis, MC
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Ellis, MC
;
Fullan, A
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Fullan, A
;
Hinton, LM
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Hinton, LM
;
Jones, NL
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Jones, NL
;
Kimmel, BE
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Kimmel, BE
;
Kronmal, GS
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Kronmal, GS
;
Lauer, P
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Lauer, P
;
Lee, VK
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Lee, VK
;
Loeb, DB
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Loeb, DB
;
Mapa, FA
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Mapa, FA
;
McClelland, E
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
McClelland, E
;
Meyer, NC
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Meyer, NC
;
Mintier, GA
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Mintier, GA
;
Moeller, N
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Moeller, N
;
Moore, T
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Moore, T
;
Morikang, E
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Morikang, E
;
Prass, CE
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Prass, CE
;
Quintana, L
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Quintana, L
;
Starnes, SM
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Starnes, SM
;
Schatzman, RC
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Schatzman, RC
;
Brunke, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Brunke, KJ
;
Drayna, DT
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Drayna, DT
;
Risch, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Risch, NJ
;
Bacon, BR
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Bacon, BR
;
Wolff, RK
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Wolff, RK
.
NATURE GENETICS,
1996,
13
(04)
:399
-408
[4]
Jazwinska EC, 1996, NAT GENET, V14, P249, DOI 10.1038/ng1196-249
[5]
Global prevalence of putative haemochromatosis mutations
[J].
MerryweatherClarke, AT
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
MerryweatherClarke, AT
;
Pointon, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
Pointon, JJ
;
Shearman, JD
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
Shearman, JD
;
Robson, KJH
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
Robson, KJH
.
JOURNAL OF MEDICAL GENETICS,
1997,
34
(04)
:275
-278
←
1
→
共 5 条
[1]
Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis
[J].
Baty, D
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Baty, D
;
Kwiatkowski, AT
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Kwiatkowski, AT
;
Mechan, D
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Mechan, D
;
Harris, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Harris, A
;
Pippard, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Pippard, MJ
;
Goudie, D
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Dundee, Ninewells Hosp & Med Sch, Mol Genet Lab, Dundee DD1 9SY, Scotland
Goudie, D
.
JOURNAL OF CLINICAL PATHOLOGY,
1998,
51
(01)
:73
-74
[2]
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
[J].
Bulaj, ZJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Bulaj, ZJ
;
Griffen, LM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Griffen, LM
;
Jorde, LB
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Jorde, LB
;
Edwards, CQ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Edwards, CQ
;
Kushner, JP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132
Kushner, JP
.
NEW ENGLAND JOURNAL OF MEDICINE,
1996,
335
(24)
:1799
-1805
[3]
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
[J].
Feder, JN
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Feder, JN
;
Gnirke, A
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Gnirke, A
;
Thomas, W
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Thomas, W
;
Tsuchihashi, Z
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Tsuchihashi, Z
;
Ruddy, DA
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Ruddy, DA
;
Basava, A
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Basava, A
;
Dormishian, F
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Dormishian, F
;
Domingo, R
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Domingo, R
;
Ellis, MC
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Ellis, MC
;
Fullan, A
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Fullan, A
;
Hinton, LM
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Hinton, LM
;
Jones, NL
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Jones, NL
;
Kimmel, BE
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Kimmel, BE
;
Kronmal, GS
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Kronmal, GS
;
Lauer, P
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Lauer, P
;
Lee, VK
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Lee, VK
;
Loeb, DB
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Loeb, DB
;
Mapa, FA
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Mapa, FA
;
McClelland, E
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
McClelland, E
;
Meyer, NC
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Meyer, NC
;
Mintier, GA
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Mintier, GA
;
Moeller, N
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Moeller, N
;
Moore, T
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Moore, T
;
Morikang, E
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Morikang, E
;
Prass, CE
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Prass, CE
;
Quintana, L
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Quintana, L
;
Starnes, SM
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Starnes, SM
;
Schatzman, RC
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Schatzman, RC
;
Brunke, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Brunke, KJ
;
Drayna, DT
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Drayna, DT
;
Risch, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Risch, NJ
;
Bacon, BR
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Bacon, BR
;
Wolff, RK
论文数:
0
引用数:
0
h-index:
0
机构:
MERCATOR GENET INC, MENLO PK, CA 94025 USA
Wolff, RK
.
NATURE GENETICS,
1996,
13
(04)
:399
-408
[4]
Jazwinska EC, 1996, NAT GENET, V14, P249, DOI 10.1038/ng1196-249
[5]
Global prevalence of putative haemochromatosis mutations
[J].
MerryweatherClarke, AT
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
MerryweatherClarke, AT
;
Pointon, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
Pointon, JJ
;
Shearman, JD
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
Shearman, JD
;
Robson, KJH
论文数:
0
引用数:
0
h-index:
0
机构:
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington
Robson, KJH
.
JOURNAL OF MEDICAL GENETICS,
1997,
34
(04)
:275
-278
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