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Novel point mutations of the ATP2A2 gene in two Chinese families with Darier disease
被引:22
作者
:
Yang, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Yang, Y
[
1
]
Li, GQ
论文数:
0
引用数:
0
h-index:
0
机构:
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Li, GQ
[
1
]
Bu, DF
论文数:
0
引用数:
0
h-index:
0
机构:
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Bu, DF
[
1
]
Zhu, XJ
论文数:
0
引用数:
0
h-index:
0
机构:
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
Zhu, XJ
[
1
]
机构
:
[1]
Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
来源
:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
|
2001年
/ 116卷
/ 03期
关键词
:
D O I
:
10.1046/j.1523-1747.2001.01279-10.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:482 / 483
页数:2
相关论文
共 6 条
[1]
DARIER-WHITE DISEASE - A REVIEW OF THE CLINICAL-FEATURES IN 163 PATIENTS
[J].
BURGE, SM
论文数:
0
引用数:
0
h-index:
0
机构:
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
BURGE, SM
;
WILKINSON, JD
论文数:
0
引用数:
0
h-index:
0
机构:
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
WILKINSON, JD
.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY,
1992,
27
(01)
:40
-50
[2]
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes
[J].
Jacobsen, NJO
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Jacobsen, NJO
;
Lyons, I
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Lyons, I
;
论文数:
引用数:
h-index:
机构:
Hoogendoorn, B
;
Burge, S
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Burge, S
;
Kwok, PY
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Kwok, PY
;
O'Donovan, MC
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
O'Donovan, MC
;
论文数:
引用数:
h-index:
机构:
Craddock, N
;
Owen, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Owen, MJ
.
HUMAN MOLECULAR GENETICS,
1999,
8
(09)
:1631
-1636
[3]
LYTTON J, 1988, J BIOL CHEM, V263, P15024
[4]
ATP2A2 mutations in Darier's disease:: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
[J].
Ruiz-Perez, VL
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Ruiz-Perez, VL
;
Carter, SA
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Carter, SA
;
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引用数:
h-index:
机构:
Healy, E
;
Todd, C
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Todd, C
;
Rees, JL
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Rees, JL
;
Steijlen, PM
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Steijlen, PM
;
Carmichael, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Carmichael, AJ
;
Lewis, HM
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Lewis, HM
;
Hohl, D
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Hohl, D
;
Itin, P
论文数:
0
引用数:
0
h-index:
0
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So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Itin, P
;
Vahlquist, A
论文数:
0
引用数:
0
h-index:
0
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So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Vahlquist, A
;
Gobello, T
论文数:
0
引用数:
0
h-index:
0
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So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Gobello, T
;
Mazzanti, C
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Mazzanti, C
;
Reggazini, R
论文数:
0
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0
h-index:
0
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So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Reggazini, R
;
Nagy, G
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Nagy, G
;
Munro, CS
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Munro, CS
;
Strachan, T
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Strachan, T
.
HUMAN MOLECULAR GENETICS,
1999,
8
(09)
:1621
-1630
[5]
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
[J].
Sakuntabhai, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Sakuntabhai, A
;
Ruiz-Perez, V
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Ruiz-Perez, V
;
Carter, S
论文数:
0
引用数:
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h-index:
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Carter, S
;
Jacobsen, N
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0
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Jacobsen, N
;
Burge, S
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Burge, S
;
Monk, S
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0
引用数:
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h-index:
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Monk, S
;
Smith, M
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
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;
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
O'Donovan, M
;
Craddock, N
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0
h-index:
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Craddock, N
;
Kucherlapati, R
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0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Kucherlapati, R
;
Rees, JL
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Rees, JL
;
Owen, M
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0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Owen, M
;
Lathrop, GM
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0
引用数:
0
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0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Lathrop, GM
;
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0
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0
h-index:
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机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Monaco, AP
;
Strachan, T
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0
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0
h-index:
0
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Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Strachan, T
;
Hovnanian, A
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0
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h-index:
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机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
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.
NATURE GENETICS,
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Dependence of epithelial intercellular junction biogenesis on thapsigargin-sensitive intracellular calcium stores
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Stuart, RO
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引用数:
0
h-index:
0
机构:
HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV RENAL,DEPT MED,BOSTON,MA 02115
Stuart, RO
;
Sun, A
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0
引用数:
0
h-index:
0
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HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV RENAL,DEPT MED,BOSTON,MA 02115
Sun, A
;
Bush, KT
论文数:
0
引用数:
0
h-index:
0
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HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV RENAL,DEPT MED,BOSTON,MA 02115
Bush, KT
;
Nigam, SK
论文数:
0
引用数:
0
h-index:
0
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HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV RENAL,DEPT MED,BOSTON,MA 02115
Nigam, SK
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
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←
1
→
共 6 条
[1]
DARIER-WHITE DISEASE - A REVIEW OF THE CLINICAL-FEATURES IN 163 PATIENTS
[J].
BURGE, SM
论文数:
0
引用数:
0
h-index:
0
机构:
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
BURGE, SM
;
WILKINSON, JD
论文数:
0
引用数:
0
h-index:
0
机构:
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
WYCOMBE GEN HOSP, DEPT DERMATOL, HIGH WYCOMBE, BUCKS, ENGLAND
WILKINSON, JD
.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY,
1992,
27
(01)
:40
-50
[2]
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes
[J].
Jacobsen, NJO
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Jacobsen, NJO
;
Lyons, I
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Lyons, I
;
论文数:
引用数:
h-index:
机构:
Hoogendoorn, B
;
Burge, S
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Burge, S
;
Kwok, PY
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Kwok, PY
;
O'Donovan, MC
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
O'Donovan, MC
;
论文数:
引用数:
h-index:
机构:
Craddock, N
;
Owen, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Div Psychol Med, Neuropsychiat Genet Unit, Cardiff CF14 4XN, S Glam, Wales
Owen, MJ
.
HUMAN MOLECULAR GENETICS,
1999,
8
(09)
:1631
-1636
[3]
LYTTON J, 1988, J BIOL CHEM, V263, P15024
[4]
ATP2A2 mutations in Darier's disease:: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
[J].
Ruiz-Perez, VL
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Ruiz-Perez, VL
;
Carter, SA
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Carter, SA
;
论文数:
引用数:
h-index:
机构:
Healy, E
;
Todd, C
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Todd, C
;
Rees, JL
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Rees, JL
;
Steijlen, PM
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Steijlen, PM
;
Carmichael, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Carmichael, AJ
;
Lewis, HM
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Lewis, HM
;
Hohl, D
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Hohl, D
;
Itin, P
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Itin, P
;
Vahlquist, A
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Vahlquist, A
;
Gobello, T
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Gobello, T
;
Mazzanti, C
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Mazzanti, C
;
Reggazini, R
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Reggazini, R
;
Nagy, G
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Nagy, G
;
Munro, CS
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Munro, CS
;
Strachan, T
论文数:
0
引用数:
0
h-index:
0
机构:
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
So Gen Hosp, Glasgow G51 4TF, Lanark, Scotland
Strachan, T
.
HUMAN MOLECULAR GENETICS,
1999,
8
(09)
:1621
-1630
[5]
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
[J].
Sakuntabhai, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Sakuntabhai, A
;
Ruiz-Perez, V
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Ruiz-Perez, V
;
Carter, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Carter, S
;
Jacobsen, N
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Jacobsen, N
;
Burge, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Burge, S
;
Monk, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Monk, S
;
Smith, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Smith, M
;
Munro, CS
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Munro, CS
;
O'Donovan, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
O'Donovan, M
;
Craddock, N
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Craddock, N
;
Kucherlapati, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Kucherlapati, R
;
Rees, JL
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Rees, JL
;
Owen, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Owen, M
;
Lathrop, GM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Lathrop, GM
;
Monaco, AP
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Monaco, AP
;
Strachan, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Strachan, T
;
Hovnanian, A
论文数:
0
引用数:
0
h-index:
0
机构:
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