Single section Western blot (SSWB) is an improved methodology for molecular diagnosis of the muscular dystrophies, requiring only a single 8-mum muscle biopsy cryosection for the simultaneous analysis of multiple disease candidates. The authors demonstrate that SSWB can be used for diagnosis of dystrophinopathies, to identify haploinsufficiency in autosomal dominant laminopathy, and as a tool to distinguish between primary and secondary immunohistochemical abnormalities in limb-girdle muscular dystrophy type 2B.
机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Bashir, R
Britton, S
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Britton, S
Strachan, T
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Strachan, T
Keers, S
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Keers, S
Vafiadaki, E
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Vafiadaki, E
Lako, M
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Lako, M
Richard, I
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Richard, I
Marchand, S
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Marchand, S
Bourg, N
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Bourg, N
Argov, Z
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Argov, Z
Sadeh, M
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Sadeh, M
Mahjneh, I
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Mahjneh, I
Marconi, G
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Marconi, G
Passos-Bueno, MR
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Passos-Bueno, MR
Moreira, ED
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Moreira, ED
Zatz, M
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Zatz, M
Beckmann, JS
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Beckmann, JS
Bushby, K
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Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, EnglandUniv Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Bashir, R
Britton, S
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Britton, S
Strachan, T
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Strachan, T
Keers, S
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Keers, S
Vafiadaki, E
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Vafiadaki, E
Lako, M
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h-index: 0
机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Lako, M
Richard, I
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Richard, I
Marchand, S
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Marchand, S
Bourg, N
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Bourg, N
Argov, Z
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Argov, Z
Sadeh, M
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Sadeh, M
Mahjneh, I
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Mahjneh, I
Marconi, G
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Marconi, G
Passos-Bueno, MR
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Passos-Bueno, MR
Moreira, ED
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Moreira, ED
Zatz, M
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Zatz, M
Beckmann, JS
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机构:Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Beckmann, JS
Bushby, K
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Univ Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, EnglandUniv Newcastle Upon Tyne, Dept Human Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England