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  1. Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

    http://iris.ucl.ac.uk/iris/publication/1561682/3

  2. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked...

    We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval spans a genetic distance of 5.41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening

    http://iris.ucl.ac.uk/iris/publication/173996/2

  3. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

    Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males.

    http://iris.ucl.ac.uk/iris/publication/1426439/1

  4. 2017 uide to UCL Institute of Ophthalmology and Moorfields Eye...

    Mutations in the X-linked gene PRPS1 cause retinal degeneration in females.

    https://www.ucl.ac.uk/ioo/news/2017/apr
    /2017-uide-ucl-institute-ophthalmology-and-moorfields-eye-hospital-presentations-arvo

  5. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the...

    PURPOSE: To determine the genetic background of sector retinitis pigmentosa (RP), natural history, in order to better inform patient counselling. DESIGN: Retrospective case series. METHODS: Review of clinical notes, retinal imaging including color

    http://iris.ucl.ac.uk/iris/publication/1809276/1

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