The deep intronic c.903+469T>C mutation in the MTRR gene...

Human Mutation 2010 Vol. 31; Iss. 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

Katerina Homolova, Petra Zavadakova, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Viktor Kozich, Brage S. Andresen
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Volume:
31
Year:
2010
Language:
english
Pages:
8
DOI:
10.1002/humu.21206
File:
PDF, 245 KB
english, 2010
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