Your browser doesn't support javascript.
loading
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Motta, Fabiana L; Martin, Renan P; Porto, Fernanda B O; Wohler, Elizabeth S; Resende, Rosane G; Gomes, Caio P; Pesquero, João B; Sallum, Juliana M F.
  • Motta FL; Department of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo SP 04039-032, Brazil.
  • Martin RP; Instituto de Genética Ocular, Sao Paulo SP 04552-050, Brazil.
  • Porto FBO; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD 21205, USA.
  • Wohler ES; INRET Clínica e Centro de Pesquisa, Belo Horizonte MG 30150-270, Brazil.
  • Resende RG; Centro Oftalmológico de Minas Gerais, Belo Horizonte MG 30180-070, Brazil.
  • Gomes CP; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD 21205, USA.
  • Pesquero JB; Instituto de Olhos Carioca, Rio de Janeiro RJ 22220-080, Brazil.
  • Sallum JMF; Department of Biophysics, Universidade Federal de São Paulo, São Paulo SP 04039-032, Brazil.
Genes (Basel) ; 11(1)2019 12 24.
Article en En | MEDLINE | ID: mdl-31878136
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Cis-trans-Isomerasas / Mutación Missense / Amaurosis Congénita de Leber / Distrofias Retinianas Tipo de estudio: Guideline / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Cis-trans-Isomerasas / Mutación Missense / Amaurosis Congénita de Leber / Distrofias Retinianas Tipo de estudio: Guideline / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article