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IMPDH1 (RP10)

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Retinal Dystrophy Gene Atlas

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Abstract

IMPDH1 (RP10) encodes inosine-5-prime-monophosphate dehydrogenase, which plays a key role in the purine biosynthesis pathway. Mutations in IMPDH1 cause 2–3% of dominant retinitis pigmentosa (ADRP) (rod-cone dystrophy) and rarely cause Leber congenital amaurosis (LCA) [1–8]. While IMPDH1 is a ubiquitously expressed gene, retina-specific isoforms may be responsible for a phenotype limited to retinal degeneration [9–11].

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References

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Authors and Affiliations

  1. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA

    Sarwar Zahid MS, MD, Kari Branham MS, CGC, Dana Schlegel MS, MPH, CGC, John Heckenlively MD & Thiran Jayasundera MD

  2. Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA

    Mark E. Pennesi MD, PhD

  3. Institute of Ophthalmology, Moorfields Eye Hospital UCL, London, UK

    Michel Michaelides MB, MD

Authors
  1. Sarwar Zahid MS, MD
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  2. Kari Branham MS, CGC
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  3. Dana Schlegel MS, MPH, CGC
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  4. Mark E. Pennesi MD, PhD
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  5. Michel Michaelides MB, MD
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  6. John Heckenlively MD
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  7. Thiran Jayasundera MD
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Zahid, S. et al. (2018). IMPDH1 (RP10) . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_38

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_38

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

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