Document Detail


Identification and Analysis of Inherited Retinal Disease Genes.
MedLine Citation:
PMID:  23150357     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Inherited retinal diseases display a very high degree of clinical and genetic heterogeneity, which poses challenges in identifying the underlying defects in known genes and in identifying novel retinal disease genes. Here, we outline the state-of-the-art techniques to find the causative DNA variants, with special attention for next-generation sequencing which can combine molecular diagnostics and retinal disease gene identification.
Authors:
Kornelia Neveling; Anneke I den Hollander; Frans P M Cremers; Rob W J Collin
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Methods in molecular biology (Clifton, N.J.)     Volume:  935     ISSN:  1940-6029     ISO Abbreviation:  Methods Mol. Biol.     Publication Date:  2013  
Date Detail:
Created Date:  2012-11-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214969     Medline TA:  Methods Mol Biol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  3-23     Citation Subset:  -    
Affiliation:
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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