Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 10, 2000, Pages 3124-3127

  Dryja, T P ^a   McEvoy, J A ^a   McGee, T L ^a   Berson, E L ^a  

^a NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM;

DNA MUTATIONAL ANALYSIS; FEMALE; GLUTAMINE; GLYCINE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROLINE; RETINITIS PIGMENTOSA; RHODOPSIN; VALINE;

EID: 0033823792     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

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5. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness
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10. Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa
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12. How sensitive is PCR-SSCP?
13. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
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15. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
16. Autosomal-dominant erbliche Retinopathia pigmentosa ist genetisch heterogen
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19. A photoreceptor gene mutation in an indigenous black African family with retinitis pig-mentosa identified using a rapid screening approach for common rhodopsin mutations