The deep intronic c.903+469T>C mutation
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Katerina Homolova; Petra Zavadakova; Thomas Koed Doktor; Lisbeth Dahl Schroeder;
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Article
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2010
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John Wiley and Sons
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English
⚖ 245 KB
Deep intronic mutations are often ignored as possible causes of human diseases. A deep intronic mutation in the MTRR gene, c.9031469T4C, is the most frequent mutation causing the cblE type of homocystinuria. It is well known to be associated with pre-mRNA missplicing, resulting in pseudoexon inclusi