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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1780486856

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

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Publisher

United States: Public Library of Science

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Scope and Contents

Contents

Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present study, we evaluated a multi-technique analysis algorithm to descri...

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Full title

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

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Record Identifier

TN_cdi_plos_journals_1780486856

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1780486856

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0151943

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