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
| Image |  |
|---|---|
| Description | scientific article published on April 2010 |
| Author/s |
author: Brage Storstein Andresen |
| Publication date | April 1, 2010 |
| Language | |
| Country of origin | |
| Wikipedia link | |
| Copyright status | |
| Missing/wrong data? | Edit Wikidata item |