A Novel Homozygous GRK1 Mutation (P391H) in 2 Siblings with Oguchi Disease with Markedly Reduced Cone Responses

Ophthalmology

Volumn 114, Issue 1, 2007, Pages

  Hayashi, Takaaki ^a   Gekka, Tamaki ^a   Takeuchi, Tomokazu ^a   Goto Omoto, Satoshi ^a   Kitahara, Kenji ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

RETINA S ANTIGEN; RHODOPSIN KINASE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COLOR VISION TEST; ELECTRORETINOGRAM; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; OGUCHI DISEASE; OPHTHALMOSCOPY; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; SEQUENCE HOMOLOGY; VISUAL ACUITY; VISUAL FIELD;

EID: 33845800940     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2006.05.069     Document Type: Article

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