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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
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
[J].
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
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
[J].
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
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
[J].
HUMAN MOLECULAR GENETICS,
1999,
8
(09)
: 1621
-
1630
[5]
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
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:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Hovnanian, A
[J].
NATURE GENETICS,
1999,
21
(03)
: 271
-
277
[6]
Dependence of epithelial intercellular junction biogenesis on thapsigargin-sensitive intracellular calcium stores
Stuart, RO
论文数:
0
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
论文数:
0
引用数:
0
h-index:
0
机构:
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
机构:
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
机构:
HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV RENAL,DEPT MED,BOSTON,MA 02115
Nigam, SK
[J].
JOURNAL OF BIOLOGICAL CHEMISTRY,
1996,
271
(23)
: 13636
-
13641
←
1
→
共 6 条
[1]
DARIER-WHITE DISEASE - A REVIEW OF THE CLINICAL-FEATURES IN 163 PATIENTS
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
[J].
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
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
[J].
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
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
[J].
HUMAN MOLECULAR GENETICS,
1999,
8
(09)
: 1621
-
1630
[5]
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
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:
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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:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Hovnanian, A
[J].
NATURE GENETICS,
1999,
21
(03)
: 271
-
277
[6]
Dependence of epithelial intercellular junction biogenesis on thapsigargin-sensitive intracellular calcium stores
Stuart, RO
论文数:
0
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
论文数:
0
引用数:
0
h-index:
0
机构:
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
机构:
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
机构:
HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV RENAL,DEPT MED,BOSTON,MA 02115
Nigam, SK
[J].
JOURNAL OF BIOLOGICAL CHEMISTRY,
1996,
271
(23)
: 13636
-
13641
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