Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 8, 2010, Pages 3884-3892

  Mizrahi Meissonnier, Liliana ^a   Merin, Saul ^a   Banin, Eyal ^a   Sharon, Dror ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; METHIONINE; OPSIN; VALINE; VISUAL PIGMENT; CONE OPSIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLOR VISION; CONTROLLED STUDY; ELECTRORETINOGRAPHY; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE; GENE DELETION; GENE MUTATION; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NYSTAGMUS; OPSIN GENE; PATHOGENESIS; PHENOTYPE; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA CONE; RETINA CONE DYSTROPHY; RETINA DISEASE; RETINA MACULOPATHY; SCHOOL CHILD; VISUAL IMPAIRMENT; X CHROMOSOME LINKAGE; AMINO ACID SEQUENCE; CHROMOSOME MAP; COLOR VISION DEFECT; COLOR VISION TEST; GENETICS; HETEROZYGOTE; JEW; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PHYSIOLOGY; RETINA DEGENERATION; VISUAL ACUITY; VISUAL FIELD; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; COLOR PERCEPTION TESTS; COLOR VISION DEFECTS; CONE OPSINS; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; JEWS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NYSTAGMUS, PATHOLOGIC; PEDIGREE; PHENOTYPE; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 77955894415     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4592     Document Type: Article

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