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3 Article(s) on File
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Features of 5-splice-site efficiency derived from disease-causing mutations and comparative genomics
Roca X,
Olson AJ,
Rao AR,
Enerly E,
Kristensen VN,
Borresen-Dale AL,
Andresen BS,
Krainer AR,
Sachidanandam R

Genome Res
  18 (1): 77-87; Jan 2008   PMCID: PMC2134769
[Abstract]
[DOI] [Full Text] [PDF]

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
Nielsen KB,
Sorensen S,
Cartegni L,
Corydon TJ,
Doktor TK,
Schroeder LD,
Reinert LS,
Elpeleg O,
Krainer AR,
Gregersen N,
Kjems J,
Andresen BS

American Journal of Human Genetics
  80 (3): 416-432; Mar 2007  
[Abstract]
[PDF]

Simple mutations in the coding region of three acyl-CoA dehydrogenase genes may lead to skipping of the constitutive exon due to disruption of potential splice enhancer sequences or mRNA secondary structures
Andresen BS,
Nielsen KB,
Madsen PP,
Corydon TJ,
Kjems J,
Krainer AR,
Elpeleg ON,
Schroeder LD,
Gregersen N

American Journal of Human Genetics
  71 (4): 196-196; Oct 2002  
[Full Text]


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