Splice-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

Bruno Palhais, Veronica Præstegaard, Rugivan Sabaratnam, Thomas Koed Doktor, Seraina Lutz, Patricie Burda, Terttu Suormala, Matthias Baumgartner, Brian Fowler, Gitte Hoffmann Bruun, Henriette Skovgaard Andersen, Viktor Kozich, Brage Storstein Andresen

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OriginalsprogEngelsk
TidsskriftNucleic Acids Research
Vol/bind43
Udgave nummer9
Sider (fra-til)4627-4639
ISSN0305-1048
DOI
StatusUdgivet - 2015

Citer dette

@article{a8e72b52e8b64f25a355bdc75e7357c0,
title = "Splice-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",
author = "Bruno Palhais and Veronica Pr{\ae}stegaard and Rugivan Sabaratnam and Doktor, {Thomas Koed} and Seraina Lutz and Patricie Burda and Terttu Suormala and Matthias Baumgartner and Brian Fowler and Bruun, {Gitte Hoffmann} and Andersen, {Henriette Skovgaard} and Viktor Kozich and Andresen, {Brage Storstein}",
year = "2015",
doi = "10.1093/nar/gkv275",
language = "English",
volume = "43",
pages = "4627--4639",
journal = "Nucleic Acids Research",
issn = "0305-1048",
publisher = "Heinemann",
number = "9",

}

Splice-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. / Palhais, Bruno; Præstegaard, Veronica; Sabaratnam, Rugivan; Doktor, Thomas Koed; Lutz, Seraina; Burda, Patricie ; Suormala, Terttu ; Baumgartner, Matthias; Fowler, Brian ; Bruun, Gitte Hoffmann; Andersen, Henriette Skovgaard; Kozich, Viktor; Andresen, Brage Storstein.

I: Nucleic Acids Research, Bind 43, Nr. 9, 2015, s. 4627-4639.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Splice-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

AU - Palhais, Bruno

AU - Præstegaard, Veronica

AU - Sabaratnam, Rugivan

AU - Doktor, Thomas Koed

AU - Lutz, Seraina

AU - Burda, Patricie

AU - Suormala, Terttu

AU - Baumgartner, Matthias

AU - Fowler, Brian

AU - Bruun, Gitte Hoffmann

AU - Andersen, Henriette Skovgaard

AU - Kozich, Viktor

AU - Andresen, Brage Storstein

PY - 2015

Y1 - 2015

U2 - 10.1093/nar/gkv275

DO - 10.1093/nar/gkv275

M3 - Journal article

C2 - 25878036

VL - 43

SP - 4627

EP - 4639

JO - Nucleic Acids Research

JF - Nucleic Acids Research

SN - 0305-1048

IS - 9

ER -