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A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
Musa, Sara; Eyaid, Wafaa; Kamer, Kimberli; Ali, Rehab; Al-Mureikhi, Mariam; Shahbeck, Noora; Al Mesaifri, Fatma; Makhseed, Nawal; Mohamed, Zakkiriah; AlShehhi, Wafaa Ali; Mootha, Vamsi K; Juusola, Jane; Ben-Omran, Tawfeg.
Afiliación
  • Musa S; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Eyaid W; Department of Paediatrics, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
  • Kamer K; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Ali R; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.
  • Al-Mureikhi M; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Shahbeck N; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Al Mesaifri F; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Makhseed N; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Mohamed Z; Department of Pediatrics, Jahra Hospital, Kuwait, Kuwait.
  • AlShehhi WA; Department of Pediatrics, Al-Adan Hospital, Kuwait, Kuwait.
  • Mootha VK; The Royal Hospital, Muscat, Oman.
  • Juusola J; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Ben-Omran T; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.
JIMD Rep ; 43: 79-83, 2019.
Article en En | MEDLINE | ID: mdl-29721912
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: JIMD Rep Año: 2019 Tipo del documento: Article País de afiliación: Qatar
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: JIMD Rep Año: 2019 Tipo del documento: Article País de afiliación: Qatar