Concepedia

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

Aleix Navarro‐Sastre, Elena Martín‐Hernández, Yolanda Campos, Ester Quintana, Enrique Medina, Rogelio Simón de las Heras, Montserrat Lluch, Alberto Múñoz, Pilar del Hoyo, Rebeca Martín,

Molecular Genetics and Metabolism · 2008 · 47 citations · 20 references

DOI

Concepts

References

20

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 621 citations

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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 585 citations

, , +11

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Alice Bourdon, Limor Minai, Valérie Serre et al. · Nature Genetics · 2007 · 525 citations

, , +12

<i>POLG</i> mutations associated with Alpers' syndrome and mitochondrial DNA depletion

Robert K. Naviaux, Khue Vu Nguyen · Annals of Neurology · 2004 · 460 citations

, , +17

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra et al. · Nature Genetics · 2006 · 418 citations

, , +8