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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.
Ma, Yan; Wang, Xun; Shoshany, Nadav; Jiao, Xiaodong; Lee, Adrian; Ku, Gregory; Baple, Emma L; Fasham, James; Nadeem, Raheela; Naeem, Muhammad Asif; Riazuddin, Sheikh; Riazuddin, S Amer; Crosby, Andrew H; Hejtmancik, J Fielding.
Afiliação
  • Ma Y; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
  • Wang X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
  • Shoshany N; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
  • Jiao X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
  • Lee A; Matlow's Ophthalmo-genetic Laboratory, Shamir Medical Center, Zeriffin, Israel.
  • Ku G; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
  • Baple EL; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
  • Fasham J; Diabetes Center, University of California, San Francisco, San Francisco, CA, United States.
  • Nadeem R; Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Naeem MA; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Gladstone Road, Exeter, United Kingdom.
  • Riazuddin S; Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Riazuddin SA; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Gladstone Road, Exeter, United Kingdom.
  • Crosby AH; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Hejtmancik JF; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Front Genet ; 13: 804924, 2022.
Article em En | MEDLINE | ID: mdl-35391798

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos