Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. [electronic resource]
- European journal of human genetics : EJHG Nov 2008
- 1311-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1018-4813
10.1038/ejhg.2008.109 doi
Alternative Splicing--genetics Fabry Disease--enzymology Fibroblasts--enzymology Gene Expression Regulation, Enzymologic--genetics Humans Male Open Reading Frames--genetics Point Mutation RNA, Messenger--biosynthesis Reverse Transcriptase Polymerase Chain Reaction Transcription, Genetic--genetics alpha-Galactosidase--biosynthesis