Developmental or degenerative - NR2E3 gene mutations in two patients with enhanced S cone syndrome

Molecular Vision

Volumn 17, Issue , 2011, Pages 519-525

  Udar, Nitin ^a   Small, Kent ^b   Chalukya, Meenal ^c   Silva Garcia, Rosamaria ^b   Marmor, Michael ^d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; BRAZIL; CASE REPORT; CHILD; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; DNA BINDING; DNA TEMPLATE; ELECTRORETINOGRAPHY; ENHANCED S CONE SYNDROME; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GOLDMANN FAVRE SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRAN; NUCLEAR RECEPTOR SUBFAMILY 2 GROUP E MEMBER 3 GENE; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; RETINA DISEASE; RETINA ROD; SCHOOL CHILD;

ADULT; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; FEMALE; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; ORPHAN NUCLEAR RECEPTORS; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; SYNDROME;

EID: 79952143871     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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