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SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Aldosary, Mazhor; Baselm, Shahad; Abdulrahim, Maha; Almass, Rawan; Alsagob, Maysoon; AlMasseri, Zainab; Huma, Rozeena; AlQuait, Laila; Al-Shidi, Tarfa; Al-Obeid, Eman; AlBakheet, Albandary; Alahideb, Basma; Alahaidib, Lujane; Qari, Alya; Taylor, Robert W; Colak, Dilek; AlSayed, Moeenaldeen D; Kaya, Namik.
Afiliación
  • Aldosary M; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Baselm S; Translational Genomics Department, Center for Genomic Medicine (CGM) King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Abdulrahim M; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Almass R; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Alsagob M; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • AlMasseri Z; Translational Genomics Department, Center for Genomic Medicine (CGM) King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Huma R; Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • AlQuait L; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Al-Shidi T; Translational Genomics Department, Center for Genomic Medicine (CGM) King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Al-Obeid E; King Abdulaziz City for Science and Technology Riyadh Saudi Arabia.
  • AlBakheet A; Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Alahideb B; Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Alahaidib L; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Qari A; Translational Genomics Department, Center for Genomic Medicine (CGM) King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Taylor RW; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Colak D; Translational Genomics Department, Center for Genomic Medicine (CGM) King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • AlSayed MD; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
  • Kaya N; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
JIMD Rep ; 60(1): 75-87, 2021 Jul.
Article en En | MEDLINE | ID: mdl-34258143
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: JIMD Rep Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: JIMD Rep Año: 2021 Tipo del documento: Article