Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Filoni, Camilla

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