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FAM161A

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Retinal Dystrophy Gene Atlas

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Abstract

FAM161A encodes a ciliary protein that appears to be involved in microtubule stabilization/transport. Mutations in FAM161A have been associated with autosomal recessive retinitis pigmentosa (RP) [1–3].

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References

  1. Gu S, Kumaramanickavel G, Srikumari CR, Denton MJ, Gal A. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. J Med Genet. 1999;36(9):705–7.

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  2. Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, et al. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Am J Hum Genet. 2010;87(3):376–81.

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  3. Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe’er J, et al. Homozygosity mapping reveals null mutations in FAM161A as a cause of Autosomal-recessive retinitis Pigmentosa. Am J Hum Genet. 2010;87(3):382–91.

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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). FAM161A . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_31

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_31

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

  • eBook Packages: MedicineMedicine (R0)

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