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A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
Buena-Atienza, Elena; Nasser, Fadi; Kohl, Susanne; Wissinger, Bernd.
Affiliation
  • Buena-Atienza E; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn 7, D-72076, Tuebingen, Germany.
  • Nasser F; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn 7, D-72076, Tuebingen, Germany.
  • Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn 7, D-72076, Tuebingen, Germany.
  • Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn 7, D-72076, Tuebingen, Germany. wissinger@uni-tuebingen.de.
BMC Med Genet ; 19(1): 107, 2018 06 26.
Article in En | MEDLINE | ID: mdl-29940872
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Multigene Family / Color Vision Defects / Sequence Deletion / Rod Opsins Limits: Adult / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Alemania
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Multigene Family / Color Vision Defects / Sequence Deletion / Rod Opsins Limits: Adult / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Alemania