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Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Snyder, Matthew T; Manor, Joshua; Gijavanekar, Charul; Mizerik, Elizabeth; Kralik, Stephen F; Elsea, Sarah H; Machol, Keren; Emrick, Lisa; Scaglia, Fernando.
  • Snyder MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Manor J; Texas Children's Hospital, Houston, Texas, USA.
  • Gijavanekar C; Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Kralik SF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Elsea SH; Texas Children's Hospital, Houston, Texas, USA.
  • Machol K; Texas Children's Hospital, Houston, Texas, USA.
  • Emrick L; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Am J Med Genet A ; 194(3): e63461, 2024 Mar.
Article en En | MEDLINE | ID: mdl-37953071
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis Láctica / Encefalomiopatías Mitocondriales / Síndrome MELAS / Accidente Cerebrovascular Límite: Child, preschool / Female / Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis Láctica / Encefalomiopatías Mitocondriales / Síndrome MELAS / Accidente Cerebrovascular Límite: Child, preschool / Female / Humans Idioma: En Año: 2024 Tipo del documento: Article