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Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis
被引:26
作者
:
Akiyama, M
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Akiyama, M
Takizawa, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Takizawa, Y
Suzuki, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Suzuki, Y
Ishiko, A
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Ishiko, A
Matsuo, I
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Matsuo, I
Shimizu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Shimizu, H
机构
:
[1]
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
[2]
Keio Univ, Sch Med, Dept Dermatol, Tokyo, Japan
[3]
Hokkaido Univ, Grad Sch Med, Dept Dermatol, Sapporo, Hokkaido, Japan
来源
:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
|
2001年
/ 116卷
/ 06期
关键词
:
D O I
:
10.1046/j.0022-202x.2001.01367.x
中图分类号
:
R75 [皮肤病学与性病学];
学科分类号
:
100206 ;
摘要
:
引用
收藏
页码:992 / 995
页数:4
相关论文
共 21 条
[1]
EXPRESSION OF TISSUE TRANSGLUTAMINASE IN SKELETAL TISSUES CORRELATES WITH EVENTS OF TERMINAL DIFFERENTIATION OF CHONDROCYTES
AESCHLIMANN, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
AESCHLIMANN, D
WETTERWALD, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
WETTERWALD, A
FLEISCH, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
FLEISCH, H
PAULSSON, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
PAULSSON, M
[J].
JOURNAL OF CELL BIOLOGY,
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Expression of transglutaminase activity in developing human epidermis
Akiyama, M
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Akiyama, M
Smith, LT
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Smith, LT
Shimizu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Shimizu, H
[J].
BRITISH JOURNAL OF DERMATOLOGY,
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Periderm cells form cornified cell envelope in their regression process during human epidermal development
Akiyama, M
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Akiyama, M
Smith, LT
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Smith, LT
Yoneda, K
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Yoneda, K
Holbrook, KA
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Holbrook, KA
Hohl, D
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Hohl, D
Shimizu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Shimizu, H
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Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
Akiyama, M
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Akiyama, M
Takizawa, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Takizawa, Y
Kokaji, T
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Kokaji, T
Shimizu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Shimizu, H
[J].
BRITISH JOURNAL OF DERMATOLOGY,
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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
Fischer, J
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Fischer, J
Faure, A
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Faure, A
Bouadjar, B
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Bouadjar, B
Blanchet-Bardon, C
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Blanchet-Bardon, C
Karaduman, A
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Karaduman, A
Thomas, I
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Thomas, I
Emre, S
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Emre, S
Cure, S
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Cure, S
Özgüc, M
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Özgüc, M
Weissenbach, J
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Weissenbach, J
Prud'homme, JF
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
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AMERICAN JOURNAL OF HUMAN GENETICS,
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Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
Hennies, HC
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引用数:
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h-index:
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机构:
Humboldt Univ, Inst Human Genet, D-13353 Berlin, Germany
Hennies, HC
Küster, W
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0
引用数:
0
h-index:
0
机构:
Humboldt Univ, Inst Human Genet, D-13353 Berlin, Germany
Küster, W
Wiebe, V
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0
引用数:
0
h-index:
0
机构:
Humboldt Univ, Inst Human Genet, D-13353 Berlin, Germany
Wiebe, V
Krebsová, A
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0
引用数:
0
h-index:
0
机构:
Humboldt Univ, Inst Human Genet, D-13353 Berlin, Germany
Krebsová, A
Reis, A
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Hohl, D
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CHU Vaudois, DHURDV, Dept Dermatol, Serv Dermatol, CH-1011 Lausanne, Switzerland
CHU Vaudois, DHURDV, Dept Dermatol, Serv Dermatol, CH-1011 Lausanne, Switzerland
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Aeschlimann, D
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CHU Vaudois, DHURDV, Dept Dermatol, Serv Dermatol, CH-1011 Lausanne, Switzerland
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Huber, M
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CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND
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CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND
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CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND
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CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND
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BON, A
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CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND
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CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND
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CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND
SCHORDERET, DF
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共 21 条
[1]
EXPRESSION OF TISSUE TRANSGLUTAMINASE IN SKELETAL TISSUES CORRELATES WITH EVENTS OF TERMINAL DIFFERENTIATION OF CHONDROCYTES
AESCHLIMANN, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
AESCHLIMANN, D
WETTERWALD, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
WETTERWALD, A
FLEISCH, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
FLEISCH, H
PAULSSON, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
UNIV BERN,DEPT PATHOPHYSIOL,CH-3010 BERN,SWITZERLAND
PAULSSON, M
[J].
JOURNAL OF CELL BIOLOGY,
1993,
120
(06)
: 1461
-
1470
[2]
Expression of transglutaminase activity in developing human epidermis
Akiyama, M
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Akiyama, M
Smith, LT
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Smith, LT
Shimizu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Shimizu, H
[J].
BRITISH JOURNAL OF DERMATOLOGY,
2000,
142
(02)
: 223
-
225
[3]
Periderm cells form cornified cell envelope in their regression process during human epidermal development
Akiyama, M
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Akiyama, M
Smith, LT
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Smith, LT
Yoneda, K
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Yoneda, K
Holbrook, KA
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Holbrook, KA
Hohl, D
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Hohl, D
Shimizu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Kitasato Inst Hosp, Div Dermatol, Minato Ku, Tokyo 1088642, Japan
Shimizu, H
[J].
JOURNAL OF INVESTIGATIVE DERMATOLOGY,
1999,
112
(06)
: 903
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909
[4]
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
Akiyama, M
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Akiyama, M
Takizawa, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Takizawa, Y
Kokaji, T
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Kokaji, T
Shimizu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
Shimizu, H
[J].
BRITISH JOURNAL OF DERMATOLOGY,
2001,
144
(02)
: 401
-
407
[5]
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
Fischer, J
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Fischer, J
Faure, A
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Faure, A
Bouadjar, B
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Bouadjar, B
Blanchet-Bardon, C
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Blanchet-Bardon, C
Karaduman, A
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Karaduman, A
Thomas, I
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Thomas, I
Emre, S
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Emre, S
Cure, S
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Cure, S
Özgüc, M
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Özgüc, M
Weissenbach, J
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Weissenbach, J
Prud'homme, JF
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Natl Genotypage, F-91057 Evry, France
Prud'homme, JF
[J].
AMERICAN JOURNAL OF HUMAN GENETICS,
2000,
66
(03)
: 904
-
913
[6]
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
Hennies, HC
论文数:
0
引用数:
0
h-index:
0
机构:
Humboldt Univ, Inst Human Genet, D-13353 Berlin, Germany
Hennies, HC
Küster, W
论文数:
0
引用数:
0
h-index:
0
机构:
Humboldt Univ, Inst Human Genet, D-13353 Berlin, Germany
Küster, W
Wiebe, V
论文数:
0
引用数:
0
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