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PYRUVATE-DEHYDROGENASE DEFICIENCY
被引:130
作者
:
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford OX1 3QU, South Parks Road
BROWN, GK
OTERO, LJ
论文数:
0
引用数:
0
h-index:
0
机构:
Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford OX1 3QU, South Parks Road
OTERO, LJ
LEGRIS, M
论文数:
0
引用数:
0
h-index:
0
机构:
Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford OX1 3QU, South Parks Road
LEGRIS, M
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford OX1 3QU, South Parks Road
BROWN, RM
机构
:
[1]
Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford OX1 3QU, South Parks Road
来源
:
JOURNAL OF MEDICAL GENETICS
|
1994年
/ 31卷
/ 11期
基金
:
英国惠康基金;
关键词
:
D O I
:
10.1136/jmg.31.11.875
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
[No abstract available]
引用
收藏
页码:875 / 879
页数:5
相关论文
共 24 条
[1]
HYPERAMMONEMIA AND LACTIC-ACIDOSIS IN A PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY
[J].
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
BROWN, GK
;
SCHOLEM, RD
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
SCHOLEM, RD
;
HUNT, SM
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
HUNT, SM
;
HARRISON, JR
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
HARRISON, JR
;
POLLARD, AC
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
POLLARD, AC
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1987,
10
(04)
:359
-366
[2]
BROWN GK, 1989, ANN NY ACAD SCI, V573, P360, DOI 10.1111/j.1749-6632.1989.tb15011.x
[3]
CEREBRAL LACTIC-ACIDOSIS - DEFECTS IN PYRUVATE METABOLISM WITH PROFOUND BRAIN-DAMAGE AND MINIMAL SYSTEMIC ACIDOSIS
[J].
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
BROWN, GK
;
HAAN, EA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
HAAN, EA
;
KIRBY, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
KIRBY, DM
;
SCHOLEM, RD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
SCHOLEM, RD
;
WRAITH, JE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
WRAITH, JE
;
ROGERS, JG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
ROGERS, JG
;
DANKS, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
DANKS, DM
.
EUROPEAN JOURNAL OF PEDIATRICS,
1988,
147
(01)
:10
-14
[4]
PYRUVATE DEHYDROGENASE-E1-ALPHA DEFICIENCY
[J].
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford, PCOX1 3QU, South Parks Road
BROWN, GK
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1992,
15
(04)
:625
-633
[5]
X-CHROMOSOME INACTIVATION AND THE DIAGNOSIS OF X-LINKED DISEASE IN FEMALES
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
BROWN, RM
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
BROWN, GK
.
JOURNAL OF MEDICAL GENETICS,
1993,
30
(03)
:177
-184
[6]
X-CHROMOSOME LOCALIZATION OF THE FUNCTIONAL GENE FOR THE E1-ALPHA SUBUNIT OF THE HUMAN PYRUVATE-DEHYDROGENASE COMPLEX
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
BROWN, RM
;
DAHL, HHM
论文数:
0
引用数:
0
h-index:
0
DAHL, HHM
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
BROWN, GK
.
GENOMICS,
1989,
4
(02)
:174
-181
[7]
PRENATAL-DIAGNOSIS OF PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT DEFICIENCY
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
BROWN, RM
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
BROWN, GK
.
PRENATAL DIAGNOSIS,
1994,
14
(06)
:435
-441
[8]
DIFFERENTIAL METHYLATION OF THE HYPERVARIABLE LOCUS DXS255 ON ACTIVE AND INACTIVE X-CHROMOSOMES CORRELATES WITH THE EXPRESSION OF A HUMAN X-LINKED GENE
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,PARKVILLE,VIC 3052,AUSTRALIA
BROWN, RM
;
FRASER, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,PARKVILLE,VIC 3052,AUSTRALIA
FRASER, NJ
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,PARKVILLE,VIC 3052,AUSTRALIA
BROWN, GK
.
GENOMICS,
1990,
7
(02)
:215
-221
[9]
NEONATAL PYRUVATE-DEHYDROGENASE DEFICIENCY WITH LIPOATE RESPONSIVE LACTIC ACIDEMIA AND HYPERAMMONEMIA
[J].
BYRD, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
BYRD, DJ
;
KROHN, HP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
KROHN, HP
;
WINKLER, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
WINKLER, L
;
STEINBORN, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
STEINBORN, C
;
HADAM, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
HADAM, M
;
BRODEHL, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
BRODEHL, J
;
HUNNEMAN, DH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
HUNNEMAN, DH
.
EUROPEAN JOURNAL OF PEDIATRICS,
1989,
148
(06)
:543
-547
[10]
NEUROPATHOLOGY IN CEREBRAL LACTIC-ACIDOSIS
[J].
CHOW, CW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PATHOL,PARKVILLE,VIC 3052,AUSTRALIA
CHOW, CW
;
ANDERSON, RM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PATHOL,PARKVILLE,VIC 3052,AUSTRALIA
ANDERSON, RM
;
KENNY, GCT
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PATHOL,PARKVILLE,VIC 3052,AUSTRALIA
KENNY, GCT
.
ACTA NEUROPATHOLOGICA,
1987,
74
(04)
:393
-396
←
1
2
3
→
共 24 条
[1]
HYPERAMMONEMIA AND LACTIC-ACIDOSIS IN A PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY
[J].
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
BROWN, GK
;
SCHOLEM, RD
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
SCHOLEM, RD
;
HUNT, SM
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
HUNT, SM
;
HARRISON, JR
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
HARRISON, JR
;
POLLARD, AC
论文数:
0
引用数:
0
h-index:
0
机构:
ADELAIDE CHILDRENS HOSP,DEPT CHEM PATHOL,N ADELAIDE,SA 5006,AUSTRALIA
POLLARD, AC
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1987,
10
(04)
:359
-366
[2]
BROWN GK, 1989, ANN NY ACAD SCI, V573, P360, DOI 10.1111/j.1749-6632.1989.tb15011.x
[3]
CEREBRAL LACTIC-ACIDOSIS - DEFECTS IN PYRUVATE METABOLISM WITH PROFOUND BRAIN-DAMAGE AND MINIMAL SYSTEMIC ACIDOSIS
[J].
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
BROWN, GK
;
HAAN, EA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
HAAN, EA
;
KIRBY, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
KIRBY, DM
;
SCHOLEM, RD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
SCHOLEM, RD
;
WRAITH, JE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
WRAITH, JE
;
ROGERS, JG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
ROGERS, JG
;
DANKS, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
DANKS, DM
.
EUROPEAN JOURNAL OF PEDIATRICS,
1988,
147
(01)
:10
-14
[4]
PYRUVATE DEHYDROGENASE-E1-ALPHA DEFICIENCY
[J].
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford, PCOX1 3QU, South Parks Road
BROWN, GK
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1992,
15
(04)
:625
-633
[5]
X-CHROMOSOME INACTIVATION AND THE DIAGNOSIS OF X-LINKED DISEASE IN FEMALES
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
BROWN, RM
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
UNIV OXFORD,DEPT BIOCHEM,GENET LAB,5 PARKS RD,OXFORD OX1 3QU,ENGLAND
BROWN, GK
.
JOURNAL OF MEDICAL GENETICS,
1993,
30
(03)
:177
-184
[6]
X-CHROMOSOME LOCALIZATION OF THE FUNCTIONAL GENE FOR THE E1-ALPHA SUBUNIT OF THE HUMAN PYRUVATE-DEHYDROGENASE COMPLEX
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
BROWN, RM
;
DAHL, HHM
论文数:
0
引用数:
0
h-index:
0
DAHL, HHM
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
BROWN, GK
.
GENOMICS,
1989,
4
(02)
:174
-181
[7]
PRENATAL-DIAGNOSIS OF PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT DEFICIENCY
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
BROWN, RM
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
UNIV OXFORD, DEPT BIOCHEM, GENET LAB, OXFORD OX1 3QU, ENGLAND
BROWN, GK
.
PRENATAL DIAGNOSIS,
1994,
14
(06)
:435
-441
[8]
DIFFERENTIAL METHYLATION OF THE HYPERVARIABLE LOCUS DXS255 ON ACTIVE AND INACTIVE X-CHROMOSOMES CORRELATES WITH THE EXPRESSION OF A HUMAN X-LINKED GENE
[J].
BROWN, RM
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,PARKVILLE,VIC 3052,AUSTRALIA
BROWN, RM
;
FRASER, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,PARKVILLE,VIC 3052,AUSTRALIA
FRASER, NJ
;
BROWN, GK
论文数:
0
引用数:
0
h-index:
0
机构:
ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,PARKVILLE,VIC 3052,AUSTRALIA
BROWN, GK
.
GENOMICS,
1990,
7
(02)
:215
-221
[9]
NEONATAL PYRUVATE-DEHYDROGENASE DEFICIENCY WITH LIPOATE RESPONSIVE LACTIC ACIDEMIA AND HYPERAMMONEMIA
[J].
BYRD, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
BYRD, DJ
;
KROHN, HP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
KROHN, HP
;
WINKLER, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
WINKLER, L
;
STEINBORN, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
STEINBORN, C
;
HADAM, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
HADAM, M
;
BRODEHL, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
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论文数:
0
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h-index:
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机构:
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
UNIV GOTTINGEN,INST PHYSIOL,D-3400 GOTTINGEN,FED REP GER
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机构:
UNIV MELBOURNE,DEPT PATHOL,PARKVILLE,VIC 3052,AUSTRALIA
CHOW, CW
;
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论文数:
0
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h-index:
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机构:
UNIV MELBOURNE,DEPT PATHOL,PARKVILLE,VIC 3052,AUSTRALIA
ANDERSON, RM
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论文数:
0
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机构:
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