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pro vyhledávání: '"Vincent Paul T. Guzman"'
Autor:
Edward Ryan A. Collantes, Manuel S. Delfin, Baojian Fan, Justine May R. Torregosa, Christine Siguan‐Bell, Nilo Vincent de Guzman Florcruz, Jose Maria D. Martinez, Barbara Joy Masna‐Hidalgo, Vincent Paul T. Guzman, Jewel Faith Anotado‐Flores, Faye D. Levina, Sophia Raine C. Hernandez, Anthony A. Collantes, Michael Carreon Sibulo, Shisong Rong, Janey L. Wiggs
Publikováno v:
Hum Mutat
Juvenile open angle glaucoma (JOAG) is a severe type of glaucoma with onset before age 40 and dominant inheritance. Using exome sequencing we identified 3 independent families from the Philippines with novel EFEMP1 variants (c.238A>T, p.Asn80Tyr; c.1