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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves, Melissa J; Goetz, Kerry E; Guan, Bin; Ullah, Ehsan; Blain, Delphine; Zein, Wadih M; Tumminia, Santa J; Hufnagel, Robert B.
Afiliação
  • Reeves MJ; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Goetz KE; Office of the Director, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Ullah E; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Blain D; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Tumminia SJ; Office of the Director, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
Hum Mutat ; 41(9): 1528-1539, 2020 09.
Article em En | MEDLINE | ID: mdl-32531846

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Estudos de Associação Genética / Periferinas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Estudos de Associação Genética / Periferinas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article