Novel de novo mutation in a patient with best macular dystrophy

Archives of Ophthalmology

Volumn 124, Issue 6, 2006, Pages 887-889

  Apushkin, Marsha A ^a   Fishman, Gerald A ^a,c   Taylor, Christine M ^b   Stone, Edwin M ^b  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c University of Illinois Chicago   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA DETERMINATION; ELECTROOCULOGRAPHY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SCHOOL CHILD; VISUAL ACUITY;

CHILD; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; EXONS; EYE PROTEINS; HUMANS; MACULAR DEGENERATION; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RETINA; VISUAL ACUITY;

EID: 33745045401     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.124.6.887     Document Type: Article

References (13)

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