The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

Katerina Homolova; Petra Zavadakova; Thomas Koed Doktor; Lisbeth Dahl Schroeder; Viktor Kozich; Brage Storstein Andresen

doi:10.1002/humu.21206

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

Katerina Homolova, Petra Zavadakova, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Viktor Kozich, Brage Storstein Andresen

Institut for Biokemi og Molekylær Biologi

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	31
Udgave nummer	4
Sider (fra-til)	437-444
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.21206
Status	Udgivet - 2010

Dokumenter og links

10.1002/humu.21206

SDU link

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Citationsformater

@article{e07b95239cc24a1db482ac70f9ba017b,

title = "The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria",

author = "Katerina Homolova and Petra Zavadakova and Doktor, \{Thomas Koed\} and Schroeder, \{Lisbeth Dahl\} and Viktor Kozich and Andresen, \{Brage Storstein\}",

year = "2010",

doi = "10.1002/humu.21206",

language = "English",

volume = "31",

pages = "437--444",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley",

number = "4",

}

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. / Homolova, Katerina; Zavadakova, Petra; Doktor, Thomas Koed et al.
I: Human Mutation, Bind 31, Nr. 4, 2010, s. 437-444.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

TY - JOUR

T1 - The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

AU - Homolova, Katerina

AU - Zavadakova, Petra

AU - Doktor, Thomas Koed

AU - Schroeder, Lisbeth Dahl

AU - Kozich, Viktor

AU - Andresen, Brage Storstein

PY - 2010

Y1 - 2010

U2 - 10.1002/humu.21206

DO - 10.1002/humu.21206

M3 - Journal article

SN - 1059-7794

VL - 31

SP - 437

EP - 444

JO - Human Mutation

JF - Human Mutation

IS - 4

ER -