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Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Zhou, Biting; Yang, Juhua; Bai, Yue; Li, Yufei; Chen, Shuyang; Chen, Xiaole; Zhang, Nanwen; Cao, Zongfu; Zhu, Yihua; Xu, Yingying.
Afiliação
  • Zhou B; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China, zhoubiting@126.com.
  • Yang J; Department of Ophthalmology, National Regional Medical Center, Binghai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China, zhoubiting@126.com.
  • Bai Y; Fujian Institute of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China, zhoubiting@126.com.
  • Li Y; Fujian Provincial Clinical Medical Research Center of Eye Diseases and Optometry, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China, zhoubiting@126.com.
  • Chen S; Department of Bioengineering and Biopharmaceutics, School of Pharmacy, Fujian Medical University, Fuzhou, China.
  • Chen X; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
  • Zhang N; Department of Ophthalmology, National Regional Medical Center, Binghai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
  • Cao Z; Fujian Institute of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
  • Zhu Y; Fujian Provincial Clinical Medical Research Center of Eye Diseases and Optometry, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
  • Xu Y; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Ophthalmic Res ; 67(1): 62-75, 2024.
Article em En | MEDLINE | ID: mdl-38091959

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Albinismo Ocular / Síndrome de Hermanski-Pudlak Limite: Humans Idioma: En Revista: Ophthalmic Res Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Albinismo Ocular / Síndrome de Hermanski-Pudlak Limite: Humans Idioma: En Revista: Ophthalmic Res Ano de publicação: 2024 Tipo de documento: Article