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Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.
Gaier, Eric D; Sahai, Inderneel; Wiggs, Janey L; McGeeney, Brian; Hoffman, Jodi; Peeler, Crandall E.
Affiliation
  • Gaier ED; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Sahai I; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
  • Wiggs JL; Harvard Medical School, Boston, Massachusetts, USA.
  • McGeeney B; Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
  • Hoffman J; Harvard Medical School, Boston, Massachusetts, USA.
  • Peeler CE; Departments of Genetics and Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Ophthalmic Genet ; 40(6): 570-573, 2019 12.
Article in En | MEDLINE | ID: mdl-31928268
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Full text: 1 Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Proteins / Optic Atrophy / Chorea / Homozygote / Metabolism, Inborn Errors / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2019 Type: Article Affiliation country: United States
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Full text: 1 Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Proteins / Optic Atrophy / Chorea / Homozygote / Metabolism, Inborn Errors / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2019 Type: Article Affiliation country: United States