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Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
被引:239
作者
:
Berry, V
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Ophthalmol, Dept Mol Genet, London, England
Berry, V
Francis, P
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Ophthalmol, Dept Mol Genet, London, England
Francis, P
Kaushal, S
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Ophthalmol, Dept Mol Genet, London, England
Kaushal, S
Moore, A
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Ophthalmol, Dept Mol Genet, London, England
Moore, A
Bhattacharya, S
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Ophthalmol, Dept Mol Genet, London, England
Inst Ophthalmol, Dept Mol Genet, London, England
Bhattacharya, S
[
1
]
机构
:
[1]
Inst Ophthalmol, Dept Mol Genet, London, England
[2]
Moorfields Eye Hosp, London, England
[3]
Addenbrookes Hosp, Cambridge, England
来源
:
NATURE GENETICS
|
2000年
/ 25卷
/ 01期
基金
:
英国惠康基金;
关键词
:
D O I
:
10.1038/75538
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007
[遗传学]
;
090102
[作物遗传育种]
;
摘要
:
[No abstract available]
引用
收藏
页码:15 / 17
页数:3
相关论文
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Functional aspects of red cell antigens
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Bristol Inst Transfus Sci, Bristol BS10 5ND, Avon, England
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PROCESSING OF MUTANT CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR IS TEMPERATURE-SENSITIVE
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0
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0
h-index:
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WELSH, MJ
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NATURE,
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358
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Echevarria M, 1998, J PHYSIOL BIOCHEM, V54, P107
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Lens biology - development and human cataractogenesis
[J].
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UCL, Dept Mol Genet, Inst Ophthalmol, London EC1V 9EL, England
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引用数:
0
h-index:
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机构:
UCL, Dept Mol Genet, Inst Ophthalmol, London EC1V 9EL, England
Bhattacharya, S
.
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:191
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[5]
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[6]
Clinical and genetic heterogeneity in autosomal dominant cataract
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Moorfields Eye Hosp, London EC1V 2PD, England
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Moorfields Eye Hosp, London EC1V 2PD, England
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[J].
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KHORANA, HG
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BIOCHEMISTRY,
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[8]
Infantile cataracts
[J].
Lambert, SR
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Lambert, SR
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:141
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[10]
A new locus for dominant ''zonular pulverulent'' cataract, on chromosome 13
[J].
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Bhattacharya, S
;
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引用数:
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.
AMERICAN JOURNAL OF HUMAN GENETICS,
1997,
60
(06)
:1474
-1478
←
1
2
→
共 14 条
[1]
Functional aspects of red cell antigens
[J].
Daniels, G
论文数:
0
引用数:
0
h-index:
0
机构:
Bristol Inst Transfus Sci, Bristol BS10 5ND, Avon, England
Bristol Inst Transfus Sci, Bristol BS10 5ND, Avon, England
Daniels, G
.
BLOOD REVIEWS,
1999,
13
(01)
:14
-35
[2]
PROCESSING OF MUTANT CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR IS TEMPERATURE-SENSITIVE
[J].
DENNING, GM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV IOWA,COLL MED,HOWARD HUGHES MED INST,DEPT PHYSIOL & BIOPHYS,IOWA CITY,IA 52242
DENNING, GM
;
论文数:
引用数:
h-index:
机构:
ANDERSON, MP
;
AMARA, JF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV IOWA,COLL MED,HOWARD HUGHES MED INST,DEPT PHYSIOL & BIOPHYS,IOWA CITY,IA 52242
AMARA, JF
;
MARSHALL, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV IOWA,COLL MED,HOWARD HUGHES MED INST,DEPT PHYSIOL & BIOPHYS,IOWA CITY,IA 52242
MARSHALL, J
;
SMITH, AE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV IOWA,COLL MED,HOWARD HUGHES MED INST,DEPT PHYSIOL & BIOPHYS,IOWA CITY,IA 52242
SMITH, AE
;
WELSH, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV IOWA,COLL MED,HOWARD HUGHES MED INST,DEPT PHYSIOL & BIOPHYS,IOWA CITY,IA 52242
WELSH, MJ
.
NATURE,
1992,
358
(6389)
:761
-764
[3]
Echevarria M, 1998, J PHYSIOL BIOCHEM, V54, P107
[4]
Lens biology - development and human cataractogenesis
[J].
Francis, PJ
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Dept Mol Genet, Inst Ophthalmol, London EC1V 9EL, England
Francis, PJ
;
Berry, V
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Dept Mol Genet, Inst Ophthalmol, London EC1V 9EL, England
Berry, V
;
Moore, AT
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Dept Mol Genet, Inst Ophthalmol, London EC1V 9EL, England
Moore, AT
;
Bhattacharya, S
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Dept Mol Genet, Inst Ophthalmol, London EC1V 9EL, England
Bhattacharya, S
.
TRENDS IN GENETICS,
1999,
15
(05)
:191
-196
[5]
Progress on the structure and function of aquaporin 1
[J].
Heymann, JB
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Basel, Biozentrum, ME Muller Inst Microscop Struct Biol, CH-4056 Basel, Switzerland
Univ Basel, Biozentrum, ME Muller Inst Microscop Struct Biol, CH-4056 Basel, Switzerland
Heymann, JB
;
Agre, P
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Basel, Biozentrum, ME Muller Inst Microscop Struct Biol, CH-4056 Basel, Switzerland
Agre, P
;
论文数:
引用数:
h-index:
机构:
Engel, A
.
JOURNAL OF STRUCTURAL BIOLOGY,
1998,
121
(02)
:191
-206
[6]
Clinical and genetic heterogeneity in autosomal dominant cataract
[J].
Ionides, A
论文数:
0
引用数:
0
h-index:
0
机构:
Moorfields Eye Hosp, London EC1V 2PD, England
Ionides, A
;
Francis, P
论文数:
0
引用数:
0
h-index:
0
机构:
Moorfields Eye Hosp, London EC1V 2PD, England
Francis, P
;
Berry, V
论文数:
0
引用数:
0
h-index:
0
机构:
Moorfields Eye Hosp, London EC1V 2PD, England
Berry, V
;
Mackay, D
论文数:
0
引用数:
0
h-index:
0
机构:
Moorfields Eye Hosp, London EC1V 2PD, England
Mackay, D
;
Bhattacharya, S
论文数:
0
引用数:
0
h-index:
0
机构:
Moorfields Eye Hosp, London EC1V 2PD, England
Bhattacharya, S
;
Shiels, A
论文数:
0
引用数:
0
h-index:
0
机构:
Moorfields Eye Hosp, London EC1V 2PD, England
Shiels, A
;
Moore, A
论文数:
0
引用数:
0
h-index:
0
机构:
Moorfields Eye Hosp, London EC1V 2PD, England
Moore, A
.
BRITISH JOURNAL OF OPHTHALMOLOGY,
1999,
83
(07)
:802
-808
[7]
STRUCTURE AND FUNCTION IN RHODOPSIN .7. POINT MUTATIONS ASSOCIATED WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
[J].
KAUSHAL, S
论文数:
0
引用数:
0
h-index:
0
机构:
MIT,DEPT BIOL,CAMBRIDGE,MA 02139
KAUSHAL, S
;
KHORANA, HG
论文数:
0
引用数:
0
h-index:
0
机构:
MIT,DEPT BIOL,CAMBRIDGE,MA 02139
KHORANA, HG
.
BIOCHEMISTRY,
1994,
33
(20)
:6121
-6128
[8]
Infantile cataracts
[J].
Lambert, SR
论文数:
0
引用数:
0
h-index:
0
机构:
EMORY UNIV, DEPT OPHTHALMOL, ATLANTA, GA 30322 USA
EMORY UNIV, DEPT OPHTHALMOL, ATLANTA, GA 30322 USA
Lambert, SR
;
论文数:
引用数:
h-index:
机构:
Drack, AV
.
SURVEY OF OPHTHALMOLOGY,
1996,
40
(06)
:427
-458
[9]
The aquaporin family of water channel proteins in clinical medicine
[J].
Lee, MD
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV, SCH MED, DEPT BIOL CHEM, BALTIMORE, MD 21205 USA
Lee, MD
;
King, LS
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV, SCH MED, DEPT BIOL CHEM, BALTIMORE, MD 21205 USA
King, LS
;
Agre, P
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV, SCH MED, DEPT BIOL CHEM, BALTIMORE, MD 21205 USA
Agre, P
.
MEDICINE,
1997,
76
(03)
:141
-156
[10]
A new locus for dominant ''zonular pulverulent'' cataract, on chromosome 13
[J].
Mackay, D
论文数:
0
引用数:
0
h-index:
0
机构:
MOORFIELDS EYE HOSP,LONDON,ENGLAND
Mackay, D
;
Ionides, A
论文数:
0
引用数:
0
h-index:
0
机构:
MOORFIELDS EYE HOSP,LONDON,ENGLAND
Ionides, A
;
Berry, V
论文数:
0
引用数:
0
h-index:
0
机构:
MOORFIELDS EYE HOSP,LONDON,ENGLAND
Berry, V
;
Moore, A
论文数:
0
引用数:
0
h-index:
0
机构:
MOORFIELDS EYE HOSP,LONDON,ENGLAND
Moore, A
;
Bhattacharya, S
论文数:
0
引用数:
0
h-index:
0
机构:
MOORFIELDS EYE HOSP,LONDON,ENGLAND
Bhattacharya, S
;
Shiels, A
论文数:
0
引用数:
0
h-index:
0
机构:
MOORFIELDS EYE HOSP,LONDON,ENGLAND
Shiels, A
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1997,
60
(06)
:1474
-1478
←
1
2
→