A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu

Ophthalmic Genetics

Volumn 18, Issue 2, 1997, Pages 63-70

  Ponjavic, Vesna ^a,b   Abrahamson, Magnus ^a   Andréasson, Sten ^a   Ehinger, Berndt ^a   Fex, Göran ^a   Polland, Werner ^a  

^a LUND UNIVERSITY   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Autosomal dominant retinitis pigmentosa; Full field electroretinography; Mild phenotype; Mutation screening; Rhodopsin mutation

Indexed keywords

MUTANT PROTEIN; RHODOPSIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAPHY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; ELECTRORETINOGRAPHY; EXONS; EYE DISEASES, HEREDITARY; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENETIC SCREENING; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; PROLINE; RETINITIS PIGMENTOSA; RHODOPSIN; SEQUENCE ANALYSIS, DNA; SWEDEN; VISUAL ACUITY;

EID: 0030854658     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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