Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants

Genetics in Medicine

Volumn 17, Issue 4, 2015, Pages 279-284

  Sundaresan, Periasamy ^a   Simpson, David A ^b   Sambare, Chitra ^b,c   Duffy, Seamus ^b   Lechner, Judith ^b   Dastane, Aditi ^d   Dervan, Edward W ^e   Vallabh, Neeru ^f   Chelerkar, Vidya ^c   Deshpande, Madan ^c   O'Brien, Colm ^e   McKnight, Amy Jayne ^b   Willoughby, Colin E ^f  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^c H V Desai Eye Hospital   (India)

^d Deenanth Mangeshkar Hospital   (India)

^e MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

^f UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

massively parallel sequencing; mitochondria; mtDNA; next generation sequencing; primary open angle glaucoma

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); EYE PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROPLASMY; HUMAN; INDIA; IRELAND; MITOCHONDRIAL GENE; MITOCHONDRIAL GENOME; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; GLAUCOMA, OPEN-ANGLE; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MUTATION; PATHOLOGY; PEDIGREE;

DNA, MITOCHONDRIAL; EYE PROTEINS; GENOME, HUMAN; GENOME, MITOCHONDRIAL; GLAUCOMA, OPEN-ANGLE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDIA; MUTATION; PEDIGREE;

EID: 84926472883     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.121     Document Type: Article

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