A Comprehensive Clinical and Biochemical Functional Study of a NovelRPE65Hypomorphic Mutation | Zendy

Birgit Lorenz | Zendy; Eugenia Poliakov | Zendy; Maria Schambeck | Zendy; Christoph Friedburg | Zendy; Markus N. Preising | Zendy; T. Michael Redmond | Zendy

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A Comprehensive Clinical and Biochemical Functional Study of a NovelRPE65Hypomorphic Mutation

Author(s) -

Birgit Lorenz,

Eugenia Poliakov,

Maria Schambeck,

Christoph Friedburg,

Markus N. Preising,

T. Michael Redmond

Publication year - 2008

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.07-1671

Subject(s) - rpe65 , electroretinography , cis trans isomerases , missense mutation , erg , visual phototransduction , biology , mutation , retinal , microbiology and biotechnology , genetics , retinal pigment epithelium , peptidylprolyl isomerase , biochemistry , isomerase , gene

Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. The functional consequences of the novel P25L RPE65 mutation was correlated with its early-childhood phenotype and compared with other pathogenic missense mutations.

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