Literature DB >> 8807346

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.

C Reig1, A I Alvarez, I Tejada, M Molina, E Aróstegui, R Martín, J Antich, M Carballo.   

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Year:  1996        PMID： 8807346     DOI： 10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country.

Authors:  A I Alvarez; E Arostegui; R Martin; M Duran; M L Onaindia; M Molina; M I Tejada
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

2.  Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

Authors:  María González-del Pozo; Cristina Méndez-Vidal; Nereida Bravo-Gil; Alicia Vela-Boza; Joaquin Dopazo; Salud Borrego; Guillermo Antiñolo
Journal:  PLoS One       Date:  2014-12-29       Impact factor: 3.240

3.  New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.

Authors:  Miguel de Sousa Dias; Imma Hernan; Barbara Delás; Beatriz Pascual; Emma Borràs; Maria José Gamundi; Begoña Mañé; Patricia Fernández-San José; Carmen Ayuso; Miguel Carballo
Journal:  Mol Vis       Date:  2015-08-18       Impact factor: 2.367
  3 in total

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