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pubmed-article:7760863pubmed:abstractTextTwo autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.lld:pubmed
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pubmed-article:7760863pubmed:articleTitleGly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.lld:pubmed
pubmed-article:7760863pubmed:affiliationUnidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain.lld:pubmed
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