Concepedia

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

N. Brahimi, Marguerite Jambou, Emmanuelle Sarzi, Valérie Serre, Nathalie Boddaert, S. Romano, Pascale de Lonlay, Abdelhamid Slama, Arnold Münnich, Agnès Rötig

Molecular Genetics and Metabolism · 2009 · 35 citations · 22 references

DOI

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References

22

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

Nicolas Guex, Manuel C. Peitsch · Electrophoresis · 1997 · 11.3K citations

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Automated comparative protein structure modeling with SWISS‐MODEL and Swiss‐PdbViewer: A historical perspective

Nicolas Guex, Manuel C. Peitsch, Torsten Schwede · Electrophoresis · 2009 · 2.1K citations

, , +11

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2017 · 1.1K citations

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

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