Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

Archives of Ophthalmology

Volumn 114, Issue 1, 1996, Pages 72-78

  Nakazawa, Mitsuru ^a   Kikawa, Emi ^a   Chida, Yasushi ^a   Wada, Yuko ^a   Shiono, Takashi ^a   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; HISTIDINE; PERIPHERIN; SERINE; TYROSINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CENTRAL SCOTOMA; CODON; DNA DETERMINATION; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; HUMAN; MALE; PEDIGREE ANALYSIS; PERIMETRY; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MACULA DEGENERATION; RETINA PIGMENT DEGENERATION; RETINA ROD; VISUAL FIELD DEFECT;

EID: 0030045140     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.1996.01100130068011     Document Type: Article

References (23)

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