000 01753 a2200493 4500
005 20250517025526.0
264 0 _c20150731
008 201507s 0 0 eng d
022 _a1362-4962
024 7 _a10.1093/nar/gkv275
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aPalhais, Bruno
245 0 0 _aSplice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
_h[electronic resource]
260 _bNucleic acids research
_cMay 2015
300 _a4627-39 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAnemia, Megaloblastic
_xenzymology
650 0 4 _aCell Line
650 0 4 _aCells, Cultured
650 0 4 _aExons
650 0 4 _aFerredoxin-NADP Reductase
_xgenetics
650 0 4 _aHEK293 Cells
650 0 4 _aHomocystinuria
_xenzymology
650 0 4 _aHumans
650 0 4 _aMutation
650 0 4 _aOligonucleotides
650 0 4 _aRNA Splice Sites
650 0 4 _aRNA Splicing
650 0 4 _aRegulatory Sequences, Ribonucleic Acid
700 1 _aPræstegaard, Veronica S
700 1 _aSabaratnam, Rugivan
700 1 _aDoktor, Thomas Koed
700 1 _aLutz, Seraina
700 1 _aBurda, Patricie
700 1 _aSuormala, Terttu
700 1 _aBaumgartner, Matthias
700 1 _aFowler, Brian
700 1 _aBruun, Gitte Hoffmann
700 1 _aAndersen, Henriette Skovgaard
700 1 _aKožich, Viktor
700 1 _aAndresen, Brage Storstein
773 0 _tNucleic acids research
_gvol. 43
_gno. 9
_gp. 4627-39
856 4 0 _uhttps://doi.org/10.1093/nar/gkv275
_zAvailable from publisher's website
999 _c24808698
_d24808698