Single choroideremia Gene in Nonmammalian Vertebrates Explains Early Embryonic Lethality of the Zebrafish Model of Choroideremia

PURPOSE. Mutations of the CHM gene underlie the X-linked chorioretinal degeneration choroideremia (CHM). The affected gene product, Rab Escort Protein (REP) 1, mediates the post-translational prenyl modification of Rab GTPases. In patients with CHM, the related REP2 partially compensates for the los...

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Detalhes bibliográficos
Autor principal: Moosajee , M (author)
Outros Autores: Tulloch , M (author), Baron, Rudi A (author), Gregory-Evans, C Y (author), Pereira-Leal, José B. (author), Seabra, Miguel C (author)
Formato: article
Idioma:eng
Publicado em: 2017
Assuntos:
RAB GERANYLGERANYL TRANSFERASE
IDENTIFICATION
CLAWED FROGS
MUTANTS
NONSENSE MUTATIONS
SUPERFAMILY
COMPONENT-A
ESCORT PROTEIN-1
EVOLUTION
DEGENERATION
Texto completo:http://hdl.handle.net/10362/22010
País:Portugal
Oai:oai:run.unl.pt:10362/22010

Texto Completo

http://hdl.handle.net/10362/22010

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