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New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

1996; Wiley; Volume: 8; Issue: 1 Linguagem: Inglês

10.1002/(sici)1098-1004(1996)8

1098-1004

Carlos Padrós i Reig, Ana‐Isabel Alvarez, Isabel Tejada, Manuel Molina, Esteban Aróstegui, Rosa Martín, Jaume Antich, Miguel Carballo,

Cellular transport and secretion

Human MutationVolume 8, Issue 1 p. 93-94 Mutations in Brief New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family Carlos Reig, Carlos Reig Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorAna-Isabel Alvarez, Ana-Isabel Alvarez Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorIsabel Tejada, Isabel Tejada Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorManuel Molina, Manuel Molina Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorEsteban Aróstegui, Esteban Aróstegui Servicio de Oftalmología, Hospital Civil de Basurto, Bilbao, SpainSearch for more papers by this authorRosa Martín, Rosa Martín Sección de Neurofisiología, Hospital Civil de Basurto, Bilbao, SpainSearch for more papers by this authorJaume Antich, Jaume Antich Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorMiguel Carballo, Corresponding Author Miguel Carballo Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaUnidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this author Carlos Reig, Carlos Reig Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorAna-Isabel Alvarez, Ana-Isabel Alvarez Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorIsabel Tejada, Isabel Tejada Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorManuel Molina, Manuel Molina Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorEsteban Aróstegui, Esteban Aróstegui Servicio de Oftalmología, Hospital Civil de Basurto, Bilbao, SpainSearch for more papers by this authorRosa Martín, Rosa Martín Sección de Neurofisiología, Hospital Civil de Basurto, Bilbao, SpainSearch for more papers by this authorJaume Antich, Jaume Antich Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this authorMiguel Carballo, Corresponding Author Miguel Carballo Unidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaUnidad de Genética, Hospital de Sant Joan de Déu, 08034 BarcelonaSearch for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)8:1 3.0.CO;2-MCitations: 6AboutPDF 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 Al-Maghtheh M, Kim RY, Hardcastle A, Inglehearn C, Bhattacharya S (1994) A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family. Hum Mol Genet 3: 205– 206. Dryja T, McGee T, Hahn L, Cowley G, Olsson J, Reichel E, Sandberg M, Berson E (1990) Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 323: 1302– 1307. Dryja T, Berson E, Vikram R, Oprian D (1993) Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nature Genet 4: 280– 283. Humphries P, Kenne P, Farrar GJ (1992) On the molecular genetics of retinitis pigmentosa. Science 256: 804– 808. Kumaranickavel G, Maw M, Denton MJ, John S, Srisailapathy CR, Orth U, Oehlman R, Gal A Missense rhodopsin mutation in a family with recessive RP. (1994) Nature Genet 8: 10– 11. Macke JP, Davenport CM, Jacobson SG, Hennesey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, Gouras P, Good W, Nathans J (1993) Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin. Am J Hum Genet 53: 80– 89. Myers R, Maniatis T, Lerman L (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 155: 501– 527. Nathans J (1994) In the eye of the beholder: Visual pigments and inherited variation in human vision. Cell 78: 357– 360. Rodriguez J, Gannon A, Birch D, Heckenlively J, Daiger S (1994) Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa. Am J Hum Genet 55(Suppl): 1399 (Abstr). Rosenfeld P, Cowley G, McGee T, Sandberg M, Berson E, Dryja T (1992) A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet 1: 209– 213. Sheffield VC, Fishman G, Beck J, Kimura A, Stone E (1991) Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet 49: 699– 706. Sung CH, Makino C, Baylor D, Nathans J (1994) A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J Neurosci 14: 5818– 5833. Citing Literature Volume8, Issue11996Pages 93-94 ReferencesRelatedInformation