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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant, Jana; Lee, Winston; Wang, Jun; Goetz, Kerry; Ullah, Ehsan; Nagasaki, Takayuki; Su, Pei-Yin; Fishman, Gerald A; Tsang, Stephen H; Tumminia, Santa J; Brooks, Brian P; Hufnagel, Robert B; Chen, Rui; Allikmets, Rando.
Affiliation
  • Zernant J; Department of Ophthalmology, Columbia University, New York, New York, United States of America.
  • Lee W; Department of Ophthalmology, Columbia University, New York, New York, United States of America.
  • Wang J; Department of Genetics & Development, Columbia University, New York, New York, United States of America.
  • Goetz K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Ullah E; National Eye Institute, NIH, Bethesda, Maryland, United States of America.
  • Nagasaki T; National Eye Institute, NIH, Bethesda, Maryland, United States of America.
  • Su PY; Department of Ophthalmology, Columbia University, New York, New York, United States of America.
  • Fishman GA; Department of Ophthalmology, Columbia University, New York, New York, United States of America.
  • Tsang SH; The Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, Chicago, Illinois, United States of America.
  • Tumminia SJ; Department of Ophthalmology, Columbia University, New York, New York, United States of America.
  • Brooks BP; Department of Pathology & Cell Biology, Columbia University, New York, New York, United States of America.
  • Hufnagel RB; National Eye Institute, NIH, Bethesda, Maryland, United States of America.
  • Chen R; National Eye Institute, NIH, Bethesda, Maryland, United States of America.
  • Allikmets R; National Eye Institute, NIH, Bethesda, Maryland, United States of America.
PLoS Genet ; 18(3): e1010129, 2022 03.
Article in En | MEDLINE | ID: mdl-35353811
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Macular Degeneration Limits: Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2022 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Macular Degeneration Limits: Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2022 Type: Article Affiliation country: United States