Format
Sort by

Send to

Choose Destination

Search results

Items: 3

1.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.

Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151.

2.

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Donadon I, McVey JH, Garagiola I, Branchini A, Mortarino M, Peyvandi F, Bernardi F, Pinotti M.

Haematologica. 2018 Feb;103(2):344-350. doi: 10.3324/haematol.2017.178327. Epub 2017 Nov 23.

3.

Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.

Dal Mas A, Fortugno P, Donadon I, Levati L, Castiglia D, Pagani F.

Hum Mutat. 2015 May;36(5):504-12. doi: 10.1002/humu.22762. Epub 2015 Mar 19.

PMID:
25665175

Supplemental Content

Loading ...
Support Center