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Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.
de Guimaraes, Thales A C; Lai, Francesco; Colombatti, Raffaella; Sato, Giovanni; Rizzo, Roberta; Kalitzeos, Angelos; Michaelides, Michel.
Affiliation
  • de Guimaraes TAC; UCL Institute of Ophthalmology, University College London, London, UK.
  • Lai F; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Colombatti R; Unit of Oncology and Molecular Pathology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy.
  • Sato G; Department of Women's and Child's Health, University of Padova, Padova, Italy.
  • Rizzo R; Unit of Low Vision Rehabilitation, Sant'Antonio Hospital, University of Padova, Padova, Italy.
  • Kalitzeos A; Unit of Low Vision Rehabilitation, Sant'Antonio Hospital, University of Padova, Padova, Italy.
  • Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.
Ophthalmic Genet ; : 1-10, 2024 Mar 08.
Article in En | MEDLINE | ID: mdl-38454848
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2024 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2024 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido