Concepedia

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

Ashlee R. Stiles, Mariella Simon, Alexander E. Stover, Shaya S. Eftekharian, Négar Khanlou, Hanlin L. Wang, Shino Magaki, Hane Lee, Kate Partynski, Nagmeh Dorrani,

Molecular Genetics and Metabolism · 2016 · 123 citations · 26 references

DOI

Concepts

References

26

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction

Jian Ye, George Coulouris, Irena Zaretskaya et al. · BMC Bioinformatics · 2012 · 6.2K citations · Full text

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Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Nils‐Göran Larsson, Jianming Wang, Hans Wilhelmsson et al. · Nature Genetics · 1998 · 1.6K citations

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 981 citations · Full text

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ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 930 citations · Full text

, , +14

Diagnostic criteria for respiratory chain disorders in adults and children

François P. Bernier, Avihu Boneh, Xenia Dennett et al. · Neurology · 2002 · 572 citations

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