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EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes, Edward Ryan A; Delfin, Manuel S; Fan, Baojian; Torregosa, Justine May R; Siguan-Bell, Christine; Florcruz, Nilo Vincent de Guzman; Martinez, Jose Maria D; Masna-Hidalgo, Barbara Joy; Guzman, Vincent Paul T; Anotado-Flores, Jewel Faith; Levina, Faye D; Hernandez, Sophia Raine C; Collantes, Anthony A; Sibulo, Michael Carreon; Rong, Shisong; Wiggs, Janey L.
Affiliation
  • Collantes ERA; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, USA.
  • Delfin MS; Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines.
  • Fan B; Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines.
  • Torregosa JMR; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, USA.
  • Siguan-Bell C; Department of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines.
  • Florcruz NVG; Department of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines.
  • Martinez JMD; Department of Ophthalmology and Visual Sciences, University of the Philippines-Philippine General Hospital, Manila, Philippines.
  • Masna-Hidalgo BJ; Glaucoma Service, Department of Ophthalmology, East Avenue Medical Center, Quezon City, Philippines.
  • Guzman VPT; Glaucoma Service, Department of Ophthalmology, East Avenue Medical Center, Quezon City, Philippines.
  • Anotado-Flores JF; Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines.
  • Levina FD; Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines.
  • Hernandez SRC; Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines.
  • Collantes AA; Department of Ophthalmology, Jose R. Reyes Memorial Medical Center, Manila, Philippines.
  • Sibulo MC; Department of Molecular Biology, Umeå University, Umeå, Sweden.
  • Rong S; Department of Biochemistry, College of Medicine, Our Lady of Fatima University, Valenzuela, Philippines.
  • Wiggs JL; Eye Institute, St. Luke's Medical Center, Quezon City, Philippines.
Hum Mutat ; 43(2): 240-252, 2022 02.
Article in En | MEDLINE | ID: mdl-34923728
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glaucoma, Open-Angle / Extracellular Matrix Proteins / Macular Degeneration Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glaucoma, Open-Angle / Extracellular Matrix Proteins / Macular Degeneration Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States