Document Detail


Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness.
MedLine Citation:
PMID:  23296619     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Arrayed primer extension (APEX) is a microarray-based genotyping method that enables to simultaneously analyze hundreds of known mutations in the genome. APEX-based microarrays are successfully used for molecular diagnostics of various genetic disorders.Congenital stationary night blindness (CSNB) is a rare retinal disease caused by mutations in genes involved in phototransduction cascade and signaling from photoreceptors to adjacent neurons in the retina. As CSNB is clinically and genetically heterogeneous, the identification of the underlying cause of the disease can be challenging. In this chapter, we describe an APEX-based method for the analysis of genes associated with CSNB.
Authors:
Kadri Vaidla; Janne Uksti; Christina Zeitz; Eneli Oitmaa
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Methods in molecular biology (Clifton, N.J.)     Volume:  963     ISSN:  1940-6029     ISO Abbreviation:  Methods Mol. Biol.     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214969     Medline TA:  Methods Mol Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  319-26     Citation Subset:  IM    
Affiliation:
Asper Biotech Ltd, Tartu, Estonia, kadri.vaidla@asperbio.com.
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