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Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
Hum Mutat. 2008 Jun;29(6):869-78. doi: 10.1002/humu.20747.
Hum Mutat. 2008.
PMID: 18412284
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Gamundi MJ, Hernan I, Muntanyola M, Trujillo MJ, García-Sandoval B, Ayuso C, Baiget M, Carballo M.
Gamundi MJ, et al. Among authors: muntanyola m.
Mol Vis. 2007 Jun 28;13:1031-7.
Mol Vis. 2007.
PMID: 17653047
Free PMC article.
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