Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies

Genetics in Medicine

Volumn 17, Issue 4, 2015, Pages 245-252

  Lee, Kristy ^a   Garg, Seema ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL GENETICS; CLINICAL MEDICINE; DIAGNOSTIC VALUE; EXOME; GENE IDENTIFICATION; GENE SEQUENCE; GENE TECHNOLOGY; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; INHERITED RETINAL DYSTROPHY; MOLECULAR DIAGNOSIS; PHENOTYPE; RETINA DYSTROPHY; REVIEW; TURNAROUND TIME; GENE THERAPY; GENETICS; MOLECULAR PATHOLOGY; RETINAL DYSTROPHIES;

CIS TRANS ISOMERASE; RETINOID ISOMEROHYDROLASE;

CIS-TRANS-ISOMERASES; GENETIC HETEROGENEITY; GENETIC TESTING; GENETIC THERAPY; HUMANS; PATHOLOGY, MOLECULAR; PHENOTYPE; RETINAL DYSTROPHIES;

EID: 84926452646     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.15     Document Type: Review

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