A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report
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...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2018-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |