Mosaic of an ACTA1 mutation in a child with nemaline myopathy and cardiomyopathy
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作者:
Amthor, H.
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Univ Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Amthor, H.
[1
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Quijano-Roy, S.
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Univ Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Quijano-Roy, S.
[1
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Drouhin, S.
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CHU Grenoble, Lab Biochim & Genet Mol, F-38043 Grenoble, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Drouhin, S.
[2
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Claeys, K. G.
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Univ Paris 06, Inst Myol, INSERM, UMR S 974, Paris, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Claeys, K. G.
[3
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Bataille, J.
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Univ Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Bataille, J.
[1
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Estournet, B.
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Univ Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Estournet, B.
[1
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Romero, N. B.
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Univ Paris 06, Inst Myol, INSERM, UMR S 974, Paris, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Romero, N. B.
[3
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Monnier, N.
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CHU Grenoble, Lab Biochim & Genet Mol, F-38043 Grenoble, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Monnier, N.
[2
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Lunardi, J.
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CHU Grenoble, Lab Biochim & Genet Mol, F-38043 Grenoble, FranceUniv Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
Lunardi, J.
[2
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[1] Univ Versailles St Quentin En Yvelines, Ctr Hosp Raymond Poincare, Garches, France
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John Radcliffe Hosp, Dept Paediat Neurol, Oxford OX3 9DU, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Jain, R. K.
Jayawant, S.
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John Radcliffe Hosp, Dept Paediat Neurol, Oxford OX3 9DU, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Jayawant, S.
Squier, W.
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John Radcliffe Hosp, Dept Neuropathol, Oxford OX3 9DU, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Squier, W.
Muntoni, F.
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UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Muntoni, F.
Sewry, C. A.
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UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
Robert Jones & Agnes Hunt Orthopaed Hosp NHS Trus, Wolfson Ctr Inherited Neuromuscular Dis, Oswestry, Shrops, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Sewry, C. A.
Manzur, A.
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UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Manzur, A.
Quinlivan, R.
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Robert Jones & Agnes Hunt Orthopaed Hosp NHS Trus, Wolfson Ctr Inherited Neuromuscular Dis, Oswestry, Shrops, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Quinlivan, R.
Lillis, S.
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Guys Hosp, GSTT Pathol, DNA Diagnost Lab, London SE1 9RT, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Lillis, S.
Jungbluth, H.
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Guys & Thomas NHS Fdn Trust, Evelina Childrens Hosp, Dept Paediat Neurol Neuromuscular Serv, London, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Jungbluth, H.
Sparrow, J. C.
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Univ York, Dept Biol, Area 10, York YO10 5DD, N Yorkshire, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Sparrow, J. C.
Ravenscroft, G.
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Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, AustraliaUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Ravenscroft, G.
Nowak, K. J.
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Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, AustraliaUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Nowak, K. J.
Memo, M.
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Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London SW7 2AZ, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Memo, M.
Marston, S. B.
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Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London SW7 2AZ, EnglandUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Marston, S. B.
Laing, N. G.
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Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, AustraliaUniv Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
机构:
Jikei Univ, Sch Med, Dept Pediat, Tokyo, Japan
Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanJikei Univ, Sch Med, Dept Pediat, Tokyo, Japan
Yokoi, Takayuki
Sei, Kenshi
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机构:
Kanagawa Childrens Med Ctr, Div Neurol, Yokohama, Kanagawa, JapanJikei Univ, Sch Med, Dept Pediat, Tokyo, Japan
Sei, Kenshi
Enomoto, Yumi
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Kanagawa Childrens Med Ctr, Clin Res Inst, Yokohama, Kanagawa, JapanJikei Univ, Sch Med, Dept Pediat, Tokyo, Japan
Enomoto, Yumi
Naruto, Takuya
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Tokyo Med & Dent Univ, Grad Sch, Pediat & Dev Biol, Tokyo, JapanJikei Univ, Sch Med, Dept Pediat, Tokyo, Japan
Naruto, Takuya
Kurosawa, Kenji
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Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanJikei Univ, Sch Med, Dept Pediat, Tokyo, Japan
机构:
Wayne State Univ, Sch Med, Childrens Hosp Michigan, Div Child Neurol, 3901 Beaubien Blvd, Detroit, MI 48201 USAWayne State Univ, Sch Med, Childrens Hosp Michigan, Div Child Neurol, 3901 Beaubien Blvd, Detroit, MI 48201 USA
Ueda, Keisuke
Serajee, Fatema
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Wayne State Univ, Sch Med, Childrens Hosp Michigan, Div Child Neurol, 3901 Beaubien Blvd, Detroit, MI 48201 USAWayne State Univ, Sch Med, Childrens Hosp Michigan, Div Child Neurol, 3901 Beaubien Blvd, Detroit, MI 48201 USA
Serajee, Fatema
Huq, Ahm M.
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Wayne State Univ, Sch Med, Childrens Hosp Michigan, Div Child Neurol, 3901 Beaubien Blvd, Detroit, MI 48201 USAWayne State Univ, Sch Med, Childrens Hosp Michigan, Div Child Neurol, 3901 Beaubien Blvd, Detroit, MI 48201 USA