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Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Kaltak, Melita; Corradi, Zelia; Collin, Rob W J; Swildens, Jim; Cremers, Frans P M.
Affiliation
  • Kaltak M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
  • Corradi Z; R&D Department, ProQR Therapeutics, Leiden, 2333 CK, The Netherlands.
  • Collin RWJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
  • Swildens J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
  • Cremers FPM; R&D Department, ProQR Therapeutics, Leiden, 2333 CK, The Netherlands.
Hum Mol Genet ; 32(21): 3078-3089, 2023 10 17.
Article in En | MEDLINE | ID: mdl-37555651
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Macular Degeneration Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Netherlands Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Macular Degeneration Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Netherlands Country of publication: United kingdom