Your browser doesn't support javascript.
loading
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Alaimo, Joseph T; Besse, Arnaud; Alston, Charlotte L; Pang, Ki; Appadurai, Vivek; Samanta, Monisha; Smpokou, Patroula; McFarland, Robert; Taylor, Robert W; Bonnen, Penelope E.
Afiliação
  • Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Besse A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Pang K; Royal Victoria Infirmary, Great North Children's Hospital, Newcastle upon Tyne, Newcastle Upon Tyne, UK.
  • Appadurai V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Samanta M; Division of Genetics & Metabolism, Children's National Health System, Washington, District of Columbia.
  • Smpokou P; Division of Genetics & Metabolism, Children's National Health System, Washington, District of Columbia.
  • McFarland R; Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Bonnen PE; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
Hum Mutat ; 39(4): 537-549, 2018 04.
Article em En | MEDLINE | ID: mdl-29297947
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Tronco Encefálico / DNA Mitocondrial / Mutação com Perda de Função / Proteínas Ferro-Enxofre Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Tronco Encefálico / DNA Mitocondrial / Mutação com Perda de Função / Proteínas Ferro-Enxofre Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article