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Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
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Novel mutation in a case of TTLL5-associated cone dystrophy with a characteristic 'solar flare' sign

Blake G Archer1, Cecinio C Ronquillo2

  • 1Tilman J. Fertitta Family College of Medicine, University of Houston, Houston, Texas, USA.

Ophthalmic Genetics
|June 18, 2026
PubMed
Abstract

Keywords:
TTLL5cone dystrophycone-rod dystrophyinherited retinal disease

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