A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

• Main Authors: Elena Buena-Atienza (Author), Fadi Nasser (Author), Susanne Kohl (Author), Bernd Wissinger (Author)
• 格式: 圖書
• 出版: BMC, 2018-06-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of the locus control region (LCR) and/or parts of the gene cluster. We...