Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing
Mutation analysis of CACNA1F gene performed by direct sequencing on genomic DNA. (a), (b), and (c) indicate the sequencing results in II: 3 (heterozygous type), II: 4 (wild type), and III: 1 (mutant type), respectively. The arrow indicates the mutation at the nucleotide position c.1555C>T in CACNA1F gene.
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