Literature DB >> 8162026

A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.

C Reig1, N Llecha, J Antich, E Gean, I Tejada, M Molina, J Reventós, M Carballo.   

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Year:  1994        PMID： 8162026     DOI： 10.1093/hmg/3.1.195

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  2 in total

Review 1.  Finding and interpreting genetic variations that are important to ophthalmologists.

Authors:  Edwin M Stone
Journal:  Trans Am Ophthalmol Soc       Date:  2003

2.  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 in total

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