Publication

Genotyping Microarray for CSNB-Associated Genes

2009
Journal Articles

Abstract

PURPOSE. Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because of genetic heterogeneity, the uncertainty about the mode of inheritance, and time-consuming and costly mutation scanning and direct sequencing approaches.

Official source

https://infoscience.epfl.ch/entities/publication/813b425e-68c4-42f6-a6e0-aec14a36d0a5

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2009
Journal Articles

Abstract

Official source

https://infoscience.epfl.ch/entities/publication/813b425e-68c4-42f6-a6e0-aec14a36d0a5

About this result

Related concepts (18)

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DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery. Knowledge of DNA sequences has become indispensable for basic biological research, DNA Genographic Projects and in numerous applied fields such as medical diagnosis, biotechnology, forensic biology, virology and biological systematics.

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