New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration

Archives of Ophthalmology

Volumn 126, Issue 3, 2008, Pages 397-403

  Small, Kent W ^a,b   Silva Garcia, Rosamaria ^a,b   Udar, Nitin ^b   Nguyen, Eddy V ^c   Heckenlively, John R ^d  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b Molecular Insight LLC   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE; GUANYLATE CYCLASE 2D; LEUCINE; PROLINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COLOR VISION TEST; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; ELECTROOCULOGRAPHY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EYE MALFORMATION; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; SEGREGATION ANALYSIS; SLIT LAMP;

ADULT; AFRICAN AMERICANS; AGED; CONES (RETINA); ELECTRORETINOGRAPHY; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; GENES, DOMINANT; GENOTYPE; GUANYLATE CYCLASE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, CELL SURFACE; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA;

EID: 40849083533     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.126.3.397     Document Type: Article

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