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8 There is a critical level of PRPF31 needed to avoid retinal degeneration. One explanation for the incomplete penetrance seen in families with PRPF31 mutations is the variable expression levels of PRPF31. 12 It is also possible that there are splicing factors in other cell types, but not the retina, that can compensate for the mutant PRPF31. Deery et al speculated this could be due to the need to constantly replenish disc proteins in the outer segments, resulting in a higher splicing load than in other cell types. 11 The retina appears to simply have a higher dependence on this splicing factor than other tissues. A retina specific isoform has not been identified that can explain the tissue specific susceptibility of the retina to a heterozygous mutation in PRPF31. 5–10 It is interesting that PRPF31 mutations result in a retina specific phenotype when the splicing factor is ubiquitously expressed. 4 PRPF31 mutations are known to cause adRP with incomplete penetrance (RP11, OMIM 600138). 3 It links the U4/U6 complex with U5, creating the tri-snRNP of the spliceosome. PRPF31 encodes a ubiquitously expressed splicing factor. 2 Dominant disease can be due to either a toxic gain of function in which the mutation causes the protein to have a directly toxic effect on the cell, or haploinsufficiency, where half the normal amount of protein is insufficient to fulfil the needs of the cell. 1 Approximately 30%–40% of the cases of retinitis pigmentosa are autosomal dominant (adRP). It can be inherited in an autosomal recessive, autosomal dominant or x linked inheritance pattern, with different genes associated with each inheritance pattern. Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, affecting 1 in 2500–7000 people 1 Over 60 genes have been shown to cause RP ( ).

4 Keck School of Medicine, University of Southern California, Los Angeles, California, USAĭr Jean Bennett, Center for Advanced Retinal and Ocular Therapeutics (CAROT), Philadelphia, PA 19104, USA.3 Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, California, USA.

2 Department of Ophthalmology and CAROT, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania, USA.Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA 1 Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M.Access to ebooks - Different e-books are available on different e-reader platforms.Storage - The storage capacity may range from 2 GB up to 128 GB.Battery Power - Determine the battery usage time you will have between charges.Features - Review the features of each specific model.Brand - Choose an ebook reader based on the brand's reputation and the offer.As you shop for e-readers, it is important to learn about the different aspects so you can select the right ebook for you. You can have an entire library on your device. When you have an e-book device, such as a Kindle or Nook, it is advantageous to have e-books as opposed to paperback books because they take up less room.

Touchscreen - Use a touchscreen for swiping to the next page and selecting titles.

Camera - Take photos and videos with your device.

Built-in Keyboard - Access a keyboard to search for titles.

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Bluetooth - Connect Bluetooth speakers and other Bluetooth accessories.

Backlight - Be able to read in dark situations without an external light.

Here are some of the options to consider: Reading should be enjoyable, so you want a reader that works well for you. Some features, such as a backlit screen, make it easier to read a title. The features are what make each ebook reader unique. What are the different features available?

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If the reader runs the Android operating system, it can also run apps that are available from an app store. Besides the variety of styles to choose from, there are different libraries available as well. There are many types of ebook readers on the market. What are the different types of e-readers?

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Also, you can use a Wi-Fi connection to buy more titles, read reviews, and download apps. You will be able to store multiple books digitally on eReaders. You will have access to the electronic bookstore associated with the type of reader you have. It is a handheld device that allows you to download certain e-books to read. What is an ebook reader?Īn ebook reader is similar to a tablet computer. Different models are able to access titles from specific libraries. You can read the material on a screen and turn the pages by a swipe of your finger or by pressing a button. An ebook reader is designed to give you access to a library of electronic titles.

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