Articles with "known mutations" as a keyword



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Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent

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Published in 2018 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2017.1373830

Abstract: ABSTRACT Purpose: To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. Methods: A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey… read more here.

Keywords: identification genetic; ush2a rpe65; degeneration; fam161a genes ... See more keywords