Concepedia

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek‐Yagel, Jeffrey Hamada, Allison Gregory,

The American Journal of Human Genetics · 2016 · 104 citations · 45 references

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45

The Protein Data Bank

Helen M. Berman · Nucleic Acids Research · 2000 · 39.8K citations

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Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 3K citations · Full text

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New yeast-Escherichia coli shuttle vectors constructed with in vitro mutagenized yeast genes lacking six-base pair restriction sites

R. Daniel Gietz, Akio Sugino · Gene · 1988 · 2.9K citations

, , +13

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Aleksandra Trifunović, Anna Wredenberg, Maria Falkenberg et al. · Nature · 2004 · 2.7K citations

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Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

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