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

Published 2010 View Full Article

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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
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 31, Issue 4, Pages 437-444
Publisher
Wiley
Online
2010-01-30
DOI
10.1002/humu.21206

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