Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients

Japanese Journal of Ophthalmology

Volumn 48, Issue 3, 2004, Pages 228-235

  Ito, Sei ^a   Nakamura, Makoto ^a   Ohnishi, Yoshitaka ^b   Miyake, Yozo ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Cone rod dystrophy; Genetic diseases; GUCY2D gene; Retinal guanylate cyclase

Indexed keywords

ARGININE; CYSTEINE; GENE PRODUCT; GUANYLATE CYCLASE; GUANYLATE CYCLASE 2D; HISTIDINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOMATION; AUTOSOMAL DOMINANT CONE ROD DYSTROPHY; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; DARK ADAPTATION; ELECTRORETINOGRAPHY; EYE PHOTOGRAPHY; FEMALE; GENE MUTATION; GOLDMANN KINETIC PERIMETRY; HUMAN; JAPAN; OPHTHALMOLOGY; OPHTHALMOSCOPY; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA LUTEA; RETINA ROD; SLIT LAMP; VISUAL ACUITY;

ADULT; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; ATROPHY; CYSTEINE; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; GENES, DOMINANT; GUANYLATE CYCLASE; HISTIDINE; HUMANS; MALE; MUTATION; PEDIGREE; PIGMENT EPITHELIUM OF EYE; RECEPTORS, PEPTIDE; RETINAL DEGENERATION; VISUAL ACUITY; VISUAL FIELDS;

EID: 2542426768     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-003-0050-y     Document Type: Article

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