Novel Mutations in the Cellular Retinaldehyde-Binding Protein Gene (RLBP1) Associated with Retinitis Punctata Albescens: Evidence of Interfamilial Genetic Heterogeneity and Fundus Changes in Heterozygotes

Archives of Ophthalmology

Volumn 122, Issue 1, 2004, Pages 70-75

  Fishman, Gerald A ^a   Roberts, Mary Flynn ^b   Derlacki, Deborah J ^a   Grimsby, Jonna L ^c   Yamamoto, Hiroyuki ^c   Sharon, Dror ^c   Nishiguchi, Koji M ^c   Dryja, Thaddeus P ^c  

^a University of Illinois Chicago   (United States)

^b ILLINOIS COLLEGE OF OPTOMETRY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11 CIS RETINAL; DNA; INTERPHOTORECEPTOR RETINOID BINDING PROTEIN; RETINOID BINDING PROTEIN; RETINOL DEHYDROGENASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ELECTRORETINOGRAPHY; EXON; FEMALE; GENE MUTATION; GENOME; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKOCYTE; OPHTHALMOSCOPY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINITIS; RETINITIS PUNCTATA ALBESCENS; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD;

ADULT; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FUNDUS OCULI; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; NIGHT BLINDNESS; PEDIGREE; RETINA; RETINALDEHYDE; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELDS;

EID: 0346724556     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.122.1.70     Document Type: Article

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