Artigo Acesso aberto Revisado por pares

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

1994; Wiley; Volume: 3; Issue: 3 Linguagem: Inglês

10.1002/humu.1380030326

ISSN

1098-1004

Autores

Gunnar Grüning, José M. Millán, Moritz Meins, Magdalena Beneyto, Manuel Caballero, Eckart Apfelstedt-Sylla, Rosabel Bosch, Eberhart Zrenner, Félix Prieto, Andreas Gal,

Tópico(s)

RNA Interference and Gene Delivery

Resumo

Human MutationVolume 3, Issue 3 p. 321-323 Mutation in Brief Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa Gunnar Grüning, Gunnar Grüning Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Search for more papers by this authorJosé M. Millan, José M. Millan Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorMoritz Meins, Moritz Meins Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Search for more papers by this authorMagdalena Beneyto, Magdalena Beneyto Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorManuel Caballero, Manuel Caballero Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187 Departimento Genetica, Centro Nacional de Retinosis Pigmentaria, Hospital Salvador Allende, Ciudad de la Habana, Cuba.Search for more papers by this authorEckart Apfelstedt-Sylla, Eckart Apfelstedt-Sylla Augenklinik der Universität, Schleichstr. 14, D-72076 Tübingen, Germany; Fax: 451-500-4187Search for more papers by this authorRosabel Bosch, Rosabel Bosch Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorEberhart Zrenner, Eberhart Zrenner Augenklinik der Universität, Schleichstr. 14, D-72076 Tübingen, Germany; Fax: 451-500-4187Search for more papers by this authorFelix Prieto, Felix Prieto Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorAndreas Gal, Corresponding Author Andreas Gal Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Search for more papers by this author Gunnar Grüning, Gunnar Grüning Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Search for more papers by this authorJosé M. Millan, José M. Millan Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorMoritz Meins, Moritz Meins Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Search for more papers by this authorMagdalena Beneyto, Magdalena Beneyto Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorManuel Caballero, Manuel Caballero Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187 Departimento Genetica, Centro Nacional de Retinosis Pigmentaria, Hospital Salvador Allende, Ciudad de la Habana, Cuba.Search for more papers by this authorEckart Apfelstedt-Sylla, Eckart Apfelstedt-Sylla Augenklinik der Universität, Schleichstr. 14, D-72076 Tübingen, Germany; Fax: 451-500-4187Search for more papers by this authorRosabel Bosch, Rosabel Bosch Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorEberhart Zrenner, Eberhart Zrenner Augenklinik der Universität, Schleichstr. 14, D-72076 Tübingen, Germany; Fax: 451-500-4187Search for more papers by this authorFelix Prieto, Felix Prieto Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari "La Fe", Avenida de Campanar, 21, E-46009 Valencia, Spain; Fax: 451-500-4187Search for more papers by this authorAndreas Gal, Corresponding Author Andreas Gal Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Institut für Humangenetik, Medizinische Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany; Fax: 451-500-4187Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380030326Citations: 23 AboutPDF 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 No abstract is available for this article. References Bunge S, Wedemann H, David D, Terwilligcr DJ, van den Born LI, Aulehla-Scholz C, Samanns C, Horn M, Ott J, Schwinger E, Schinzel A, Demon MJ, Gal A (1993) Genomics 17: 230– 233. Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Shiels D, Humphries P (1991) Nature (London) 354: 478– 480. Kajiwara K, Hahn L, Mukai S, Travis GH, Berson EL, Dryja TP (1991) Nature (London) 354: 480– 483. Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM (1993a) Hum Mol Genet 2: 601– 603. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM (1993b) Nature Genet 3: 202– 207. Travis GH, Christerson L, Danielson PE, Klisak I, Sparkes RS, Hahn LB, Dryja TP, Sutcliffe G (1991) Genomics 10: 733– 739. Travis GH, Hepler E (1993) Nature Genet 3: 191– 192. Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fritzke F, Bird A (1993) Nature Genet 3: 213– 218. Citing Literature Volume3, Issue31994Pages 321-323 ReferencesRelatedInformation

Referência(s)
Altmetric
PlumX