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 (Q42321708)
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scientific article published on April 2010
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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 |
scientific article published on April 2010 |
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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 (English)
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Katerina Homolova
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Petra Zavadakova
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Thomas Koed Doktor
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Lisbeth Dahl Schroeder
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Viktor Kozich
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1 April 2010
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437-444
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