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Case Reports
. 2005 Aug;89(8):1063-4.
doi: 10.1136/bjo.2004.064139.

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration

S V Goverdhan, I K Temple, J Self, A J Lotery, M J Dixon, A R Evans
Case Reports

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration

S V Goverdhan et al. Br J Ophthalmol. 2005 Aug.
No abstract available

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Figures

Figure 1
Figure 1
Both eyes showing atrophic macular degeneration. The left eye in addition has subretinal haemorrhage (white arrow) with choroidal neovascularisation.
Figure 2
Figure 2
Mutation screening chromatograms. (A) A double peak is seen indicating the base pair mismatch in the proband. (B) A normal wave tracing from a screened AMD sample.
See this image and copyright information in PMC

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References

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