Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization-Reference-Cited by-同舟云学术

Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

Published:2007-06-18 Issue:13 Volume:35 Page:4250-4263
ISSN:1362-4962
Container-title:Nucleic Acids Research
language:en
Short-container-title:

Author:

Buratti Emanuele,Chivers Martin,Královičová Jana,Romano Maurizio,Baralle Marco,Krainer Adrian R.,Vořechovský Igor

Publisher

Oxford University Press (OUP)

Subject

Genetics

Link

http://academic.oup.com/nar/article-pdf/35/13/4250/16762055/gkm402.pdf

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2. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1;Ars;Hum. Mol. Genet,2000

3. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing;Krawczak;Hum. Mutat,2007

4. The regulation of splice-site selection, and its role in human disease;Cooper;Am. J. Hum. Genet,1997

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