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Volumn 17, Issue 6, 2007, Pages 1000-1003
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Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene
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Author keywords
Adult onset vitelliform macular dystrophy; Intrafamilial variability; Peripherin RDS gene; Retinitis pigmentosa
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Indexed keywords
ADULT;
AMINO ACID SUBSTITUTION;
ARTICLE;
CASE REPORT;
CLINICAL EXAMINATION;
ELECTRORETINOGRAPHY;
EXON;
EYE EXAMINATION;
FAMILY HISTORY;
FEMALE;
GENE MUTATION;
GENETIC ANALYSIS;
HUMAN;
NIGHT BLINDNESS;
PHENOTYPIC VARIATION;
PRIORITY JOURNAL;
RETINA MACULA DEGENERATION;
RETINITIS PIGMENTOSA;
VISUAL ACUITY;
VISUAL FIELD;
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EID: 39349095474
PISSN: 11206721
EISSN: None
Source Type: Journal
DOI: 10.1177/112067210701700624 Document Type: Article |
Times cited : (14)
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References (5)
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