Identification of a Novel Heterozygous Missense Mutation in the <i>CACNA1F</i> Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

<div>Pedigree M067 structure and segregation of<i> CACNA1F</i> mutation in a Chinese RP family. Normal individuals are shown as clear circles (females) and squares (males), affected individuals are shown as filled symbols, and carrier is shown as half-filled circle. The patient above the arrow indicates the proband. “M” indicates mutant allele of<i> CACNA1F</i> gene, c.1555C&gt;T, p.R519W, “+” indicates c.C1555 normal allele of<i> CACNA1F</i> gene.</div>

BioMed Research International

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Figure 1

Figure 1: Identification of a Novel Heterozygous Missense Mutation in the <i>CACNA1F</i> Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing 

Figure 1 | Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing 