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Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Sundaresan, Periasamy; Simpson, David A; Sambare, Chitra; Duffy, Seamus; Lechner, Judith; Dastane, Aditi; Dervan, Edward W; Vallabh, Neeru; Chelerkar, Vidya; Deshpande, Madan; O'Brien, Colm; McKnight, Amy Jayne; Willoughby, Colin E.
Afiliação
  • Sundaresan P; Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India.
  • Simpson DA; Centre for Experimental Medicine, Queen's University Belfast, Belfast, UK.
  • Sambare C; 1] Centre for Experimental Medicine, Queen's University Belfast, Belfast, UK [2] Poona Blind Men's Association's (PBMA's) H. V. Desai Eye Hospital, Pune, India.
  • Duffy S; Centre for Public Health, Queen's University Belfast, Belfast, UK.
  • Lechner J; Centre for Experimental Medicine, Queen's University Belfast, Belfast, UK.
  • Dastane A; Department of Genetics, Deenanth Mangeshkar Hospital, Pune, India.
  • Dervan EW; Institute of Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland.
  • Vallabh N; Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.
  • Chelerkar V; Poona Blind Men's Association's (PBMA's) H. V. Desai Eye Hospital, Pune, India.
  • Deshpande M; Poona Blind Men's Association's (PBMA's) H. V. Desai Eye Hospital, Pune, India.
  • O'Brien C; Institute of Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland.
  • McKnight AJ; Centre for Public Health, Queen's University Belfast, Belfast, UK.
  • Willoughby CE; Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.
Genet Med ; 17(4): 279-84, 2015 Apr.
Article em En | MEDLINE | ID: mdl-25232845
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glaucoma de Ângulo Aberto / Proteínas do Olho / Genoma Mitocondrial / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glaucoma de Ângulo Aberto / Proteínas do Olho / Genoma Mitocondrial / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article