Dark-light: Model for nightblindness from the human rhodopsin Gly-90 yields Asp mutation

A human rhodopsin mutation, Gly-90 yields Asp (Gly90Asp), cosegregated with an unusual trait of congential nightblindness in 22 at-risk members of a large autosomal dominant kindred. Gly90Asp-affected subjects up to age 33 did not show clinical retinal changes.

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Bibliographic Details
Published inProceedings of the National Academy of Sciences - PNAS Vol. 92; no. 3; p. 880
Main Authors Sieving, Paul A, Richards, Julia E, Naarendorp, Franklin, Bingham, Eve L
Format Journal Article
LanguageEnglish
Published Washington National Academy of Sciences 31.01.1995
Subjects
Blindness
Eyes & eyesight
Genes
Mutation
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Summary:A human rhodopsin mutation, Gly-90 yields Asp (Gly90Asp), cosegregated with an unusual trait of congential nightblindness in 22 at-risk members of a large autosomal dominant kindred. Gly90Asp-affected subjects up to age 33 did not show clinical retinal changes.
ISSN:0027-8424
1091-6490