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See Latest ArticlesCone-rod dystrophy and a frameshift mutation in the PROM1 gene
Molecular Vision, 08/31/09
Pras E et al. – This region encompasses the PROML1 gene, mutations of which have been implicated in retinal dystrophies. PROML1 mutation analysis identified a novel single nucleotide insertion at position 1629 of the cDNA resulting in truncation of approximately one–third of the protein. The mutation described in this report further expands the clinical spectrum of PROM1 mutations.
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