Loss of exon identity is a common mechanism of human inherited disease
نویسندگان
چکیده
منابع مشابه
Loss of exon identity is a common mechanism of human inherited disease.
It is widely accepted that at least 10% of all mutations causing human inherited disease disrupt splice-site consensus sequences. In contrast to splice-site mutations, the role of auxiliary cis-acting elements such as exonic splicing enhancers (ESE) and exonic splicing silencers (ESS) in human inherited disease is still poorly understood. Here we use a top-down approach to determine rates of lo...
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ژورنال
عنوان ژورنال: Genome Research
سال: 2011
ISSN: 1088-9051
DOI: 10.1101/gr.118638.110