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Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Zhang, Rui-Zhu; Zou, Yaqun; Pan, Te-Cheng; Markova, Dessislava; Fertala, Andrzej; Hu, Ying; Squarzoni, Stefano; Reed, Umbertina Conti; Marie, Suely K N; Bönnemann, Carsten G; Chu, Mon-Li.
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  • Zhang RZ; Departments of Dermatology and Cutaneous Biology, Philadelphia, Pennsylvania 19107.
  • Zou Y; Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104.
  • Pan TC; Departments of Dermatology and Cutaneous Biology, Philadelphia, Pennsylvania 19107.
  • Markova D; Departments of Dermatology and Cutaneous Biology, Philadelphia, Pennsylvania 19107.
  • Fertala A; Departments of Dermatology and Cutaneous Biology, Philadelphia, Pennsylvania 19107.
  • Hu Y; Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104.
  • Squarzoni S; Institute of Molecular Genetics-National Research Council, Unit of Bologna, 40136 Bologna, Italy.
  • Reed UC; Departamento de Neurologia, Faculdade de Medicina da Universidade de Sao Paulo, O5403-000 Sao Paulo SP, Brazil.
  • Marie SKN; Departamento de Neurologia, Faculdade de Medicina da Universidade de Sao Paulo, O5403-000 Sao Paulo SP, Brazil.
  • Bönnemann CG; Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104.
  • Chu ML; Departments of Dermatology and Cutaneous Biology, Philadelphia, Pennsylvania 19107; Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107. Electronic address: mon-li.chu@jefferson.edu.
J Biol Chem ; 285(13): 10005-10015, 2010 Mar 26.
Article en En | MEDLINE | ID: mdl-20106987
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme Alternativo / Mutación Missense / Colágeno Tipo VI / Genes Recesivos / Distrofias Musculares Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Año: 2010 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme Alternativo / Mutación Missense / Colágeno Tipo VI / Genes Recesivos / Distrofias Musculares Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Año: 2010 Tipo del documento: Article