Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome

(solute carrier family 25 member 46) mutations have been linked to various neurological diseases with recessive inheritance, including Leigh syndrome, optic atrophy, and lethal congenital pontocerebellar hypoplasia. SLC25A46 is expressed in the outer membrane of mitochondria, where it plays a critic...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of personalized medicine 2021-12, Vol.11 (12), p.1277
Hauptverfasser:	Li, Qifei, Madden, Jill A, Lin, Jasmine, Shi, Jiahai, Rosen, Samantha M, Schmitz-Abe, Klaus, Agrawal, Pankaj B
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Antibodies Atrophy Cell culture Cytology Endoplasmic reticulum Fibroblasts Hypoplasia Kinases Laboratories Metabolism Metabolites Mitochondria Morphology Neurological diseases Optic atrophy Phenotypes Precision medicine Proteins Software Spectrum analysis Transcription
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!