Towards a clearer picture of somatic mitochondrial DNA mutation spectrums using next generation sequencing

Mitochondrion ◽  
2012 ◽  
Vol 12 (5) ◽  
pp. 566
Author(s):  
Siôn Williams ◽  
Alicia Pickrell ◽  
Lloye Dillon ◽  
Sandra Bacman ◽  
Deborah Mash ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Generation Sequencing

A novel ATP8 gene mutation in an infant with tetralogy of Fallot

2013 ◽  
Vol 24 (3) ◽  
pp. 531-533 ◽  
Author(s):  
Turkan Tansel ◽  
Ferda Paçal ◽  
Duran Ustek
Keyword(s):  
Mitochondrial Dna ◽  
Next Generation Sequencing ◽  
Missense Mutation ◽  
Tetralogy Of Fallot ◽  
Gene Mutation ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Atp8 Gene ◽  
Generation Sequencing ◽  
Hereditary Optic Neuropathy

AbstractWe report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.

scholarly journals A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with Leukemia

2017 ◽  
Vol 19 (5) ◽  
pp. 711-721 ◽  
Author(s):  
Ilaria S. Pagani ◽  
Chung H. Kok ◽  
Verity A. Saunders ◽  
Mark B. Van der Hoek ◽  
Susan L. Heatley ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Generation Sequencing
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