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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov, Lev; Guan, Bin; Ullah, Ehsan; Archer, Steven M; Ayres, Bernadete M; Besirli, Cagri G; Wiinikka-Buesser, Laurel; Comer, Grant M; Del Monte, Monte A; Elner, Susan G; Garnai, Sarah J; Huryn, Laryssa A; Johnson, Kayla; Kamat, Shivani S; Lieu, Philip; Mian, Shahzad I; Rygiel, Christine A; Serpen, Jasmine Y; Pawar, Hemant S; Brooks, Brian P; Moroi, Sayoko E; Richards, Julia E; Hufnagel, Robert B.
Affiliation
  • Prasov L; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA. lprasov@med.umich.edu.
  • Guan B; Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA. lprasov@med.umich.edu.
  • Ullah E; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Archer SM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Ayres BM; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Besirli CG; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Wiinikka-Buesser L; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Comer GM; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Del Monte MA; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Elner SG; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Garnai SJ; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Huryn LA; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Johnson K; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Kamat SS; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Lieu P; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Mian SI; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Rygiel CA; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Serpen JY; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Pawar HS; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Moroi SE; Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA.
  • Richards JE; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA.
  • Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Sci Rep ; 10(1): 19986, 2020 11 17.
Article in En | MEDLINE | ID: mdl-33203948
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Diseases, Hereditary / Microphthalmos / Frameshift Mutation / Mutation, Missense / Serine Proteases / Hyperopia / Membrane Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: America do norte Language: En Journal: Sci Rep Year: 2020 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Diseases, Hereditary / Microphthalmos / Frameshift Mutation / Mutation, Missense / Serine Proteases / Hyperopia / Membrane Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: America do norte Language: En Journal: Sci Rep Year: 2020 Document type: Article Affiliation country: