An audit of genetic testing in diagnosis of inherited retinal disorders: A prerequisite for gene-specific intervention

Clinical and Experimental Ophthalmology

Volumn 37, Issue 7, 2009, Pages 703-711

  Pradhan, Monika ^a,b   Hayes, Ian ^c   Vincent, Andrea ^a,b  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b Eye Department   (New Zealand)

^c AUCKLAND DISTRICT HEALTH BOARD   (New Zealand)

Author keywords

Genetic testing; Micro array; Mutation; Sequencing

Indexed keywords

ADOLESCENT; ADULT; ALBINISM; ARTICLE; CHILD; CLINICAL ARTICLE; COLOR BLINDNESS; COST EFFECTIVENESS ANALYSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE; HEREDITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; MEDICAL AUDIT; PRENATAL DIAGNOSIS; RETINA DISEASE; RETINA DYSTROPHY; RETINA PIGMENT DEGENERATION; RETINITIS PIGMENTOSA; RETINOSCHISIS; RETROSPECTIVE STUDY; SCHOOL CHILD; SCLERA BUCKLING PROCEDURE; STARGARDT DISEASE; USHER SYNDROME; VITRECTOMY;

ADOLESCENT; ADULT; CHILD; EYE DISEASES, HEREDITARY; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MEDICAL AUDIT; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSTIC TECHNIQUES; PHENOTYPE; RETINAL DISEASES; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 70350147582     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/j.1442-9071.2009.02129.x     Document Type: Article

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