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Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model

2010; Wiley; Volume: 78; Issue: 5 Linguagem: Inglês

10.1111/j.1399-0004.2010.01487.x

1399-0004

Marta Cortón, M. Álvarez-Buylla Blanco, María Torres, Manuel Sánchez‐Salorio, Ángel Carracedo, Marı́a Brión,

Cellular transport and secretion

Clinical GeneticsVolume 78, Issue 5 p. 495-498 Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model M Corton, M Corton Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, SpainSearch for more papers by this authorMJ Blanco, MJ Blanco Servicio de Oftamoloxía, Hospital-University Complex of Santiago (CHUS), SpainSearch for more papers by this authorM Torres, M Torres Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain National Genotyping Center (CEGEN), University of Santiago de Compostela, Santiago de Compostela, SpainSearch for more papers by this authorM Sanchez-Salorio, M Sanchez-Salorio Instituto Gallego de Oftalmología (INGO), Santiago de Compostela, SpainSearch for more papers by this authorA Carracedo, A Carracedo Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain National Genotyping Center (CEGEN), University of Santiago de Compostela, Santiago de Compostela, SpainSearch for more papers by this authorM Brion, Corresponding Author M Brion Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain Genetics of Cardiovascular and Ophthalmologic Diseases, Hospital-University Complex of Santiago (CHUS), Santiago de Compostela, Galicia, SpainMaria BriónGenetics of Cardiovascular and Ophthalmologic DiseasesHospital-University Complex of Santiago (CHUS)Edif. Consultas Planta-2Trav. da Choupana s/n. E-15706 Santiago de CompostelaGaliciaSpainTel.: +34 981951490;fax: +34 981951473;e-mail: [email protected]Search for more papers by this author M Corton, M Corton Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, SpainSearch for more papers by this authorMJ Blanco, MJ Blanco Servicio de Oftamoloxía, Hospital-University Complex of Santiago (CHUS), SpainSearch for more papers by this authorM Torres, M Torres Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain National Genotyping Center (CEGEN), University of Santiago de Compostela, Santiago de Compostela, SpainSearch for more papers by this authorM Sanchez-Salorio, M Sanchez-Salorio Instituto Gallego de Oftalmología (INGO), Santiago de Compostela, SpainSearch for more papers by this authorA Carracedo, A Carracedo Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain National Genotyping Center (CEGEN), University of Santiago de Compostela, Santiago de Compostela, SpainSearch for more papers by this authorM Brion, Corresponding Author M Brion Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain Genetics of Cardiovascular and Ophthalmologic Diseases, Hospital-University Complex of Santiago (CHUS), Santiago de Compostela, Galicia, SpainMaria BriónGenetics of Cardiovascular and Ophthalmologic DiseasesHospital-University Complex of Santiago (CHUS)Edif. Consultas Planta-2Trav. da Choupana s/n. E-15706 Santiago de CompostelaGaliciaSpainTel.: +34 981951490;fax: +34 981951473;e-mail: [email protected]Search for more papers by this author First published: 08 October 2010 https://doi.org/10.1111/j.1399-0004.2010.01487.xCitations: 18Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Huang SH, Pittler SJ, Huang X et al. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. 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