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[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy]. / Neuropatía óptica de Leber: utilidad de la secuenciación masiva en el estudio de mutaciones mitocondriales en aparente homoplasmia.
Carrasco Salas, Pilar; Palma Milla, Carmen; López Montiel, Javier; Benito, Carmen; Franco Freire, Sara; López Siles, Juan.
Affiliation
  • Carrasco Salas P; Centro de Genética Molecular Genetaq, Málaga, España. Electronic address: pcarrascos@ymail.com.
  • Palma Milla C; Centro de Genética Molecular Genetaq, Málaga, España.
  • López Montiel J; Centro de Genética Molecular Genetaq, Málaga, España.
  • Benito C; Hospital Materno-Infantil, Hospital Universitario Carlos Haya, Málaga, España.
  • Franco Freire S; Hospital Materno-Infantil, Hospital Universitario Carlos Haya, Málaga, España.
  • López Siles J; Centro de Genética Molecular Genetaq, Málaga, España.
Med Clin (Barc) ; 146(4): 163-6, 2016 Feb 19.
Article in Es | MEDLINE | ID: mdl-26683077
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Genetic Testing / Optic Atrophy, Hereditary, Leber / High-Throughput Nucleotide Sequencing / Mutation / NADH Dehydrogenase Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Middle aged Language: Es Journal: Med Clin (Barc) Year: 2016 Document type: Article Country of publication: España
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Genetic Testing / Optic Atrophy, Hereditary, Leber / High-Throughput Nucleotide Sequencing / Mutation / NADH Dehydrogenase Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Middle aged Language: Es Journal: Med Clin (Barc) Year: 2016 Document type: Article Country of publication: España