Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase-Reference-Cited by-同舟云学术

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

Published:2011-10-11 Issue:12 Volume:32 Page:1460-1469
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Esposito Gabriella,De Falco Francesca,Tinto Nadia,Testa Francesco,Vitagliano Luigi,Tandurella Igor Cristian Maria,Iannone Lucio,Rossi Settimio,Rinaldi Ernesto,Simonelli Francesca,Zagari Adriana,Salvatore Francesco

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference41 articles.

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2. Rab geranylgeranylation occurs preferentially via the pre-formed REP-RGGT complex and is regulated by geranylgeranyl pyrophosphate;Baron;Biochem J,2008

3. The protein truncation test (PTT) as a method of detection for choroideremia mutations;Beaufrère;Exp Eye Res,1997a

4. An exonic polymorphism (381A/G) in the choroideremia gene;Beaufrère;Genet Couns,1997b

5. No missense mutation in choroideremia patients analyzed to date;Beaufrère;Ophthalmic Genet,1999

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