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Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
Burrage, Lindsay C; Tang, Sha; Wang, Jing; Donti, Taraka R; Walkiewicz, Magdalena; Luchak, J Michael; Chen, Li-Chieh; Schmitt, Eric S; Niu, Zhiyv; Erana, Rodrigo; Hunter, Jill V; Graham, Brett H; Wong, Lee-Jun; Scaglia, Fernando.
Afiliación
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: burrage@bcm.edu.
  • Tang S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: stang@ambrygen.com.
  • Wang J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jwang7@bcm.edu.
  • Donti TR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: donti@bcm.edu.
  • Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: Magdalena.Walkiewicz@bcm.edu.
  • Luchak JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jluchak@bcm.edu.
  • Chen LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: ziv28@hotmail.com.
  • Schmitt ES; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: eschmitt@bcm.edu.
  • Niu Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: zniu@bcm.edu.
  • Erana R; Department of Pediatrics, Division of Hematology and Oncology, Baylor College of Medicine, Houston, TX, USA. Electronic address: rxerana@txch.org.
  • Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA. Electronic address: jvhunter@texaschildrens.org.
  • Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: bgraham@bcm.edu.
  • Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: ljwong@bcm.edu.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: fscaglia@bcm.edu.
Mol Genet Metab ; 113(3): 207-12, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25037980
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Acidosis Láctica / ADN Mitocondrial / Miopatías Mitocondriales / ATPasas de Translocación de Protón Mitocondriales / Anemia Sideroblástica Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Acidosis Láctica / ADN Mitocondrial / Miopatías Mitocondriales / ATPasas de Translocación de Protón Mitocondriales / Anemia Sideroblástica Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article