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A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Oscar Ortega-Recalde1, Dora Janeth Fonseca, Liliana Catherine Patiño

  • 1Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.

Mitochondrion
|April 9, 2013
PubMed

Keywords:
CIDiffuse leukodystrophyGeneticsMDMitochondrial diseaseNDUFV1 mutationsNMDcomplex Imitochondrial respiratory chain disordersnonsense-mediated decay

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