TY  - GEN
AU  - Filoni,Camilla
AU  - Caciotti,Anna
AU  - Carraresi,Laura
AU  - Donati,Maria Alice
AU  - Mignani,Renzo
AU  - Parini,Rossella
AU  - Filocamo,Mirella
AU  - Soliani,Fausto
AU  - Simi,Lisa
AU  - Guerrini,Renzo
AU  - Zammarchi,Enrico
AU  - Morrone,Amelia
TI  - Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease
SN  - 1018-4813
PY  - 2009///0723
KW  - Alternative Splicing
KW  - genetics
KW  - Fabry Disease
KW  - enzymology
KW  - Fibroblasts
KW  - Gene Expression Regulation, Enzymologic
KW  - Humans
KW  - Male
KW  - Open Reading Frames
KW  - Point Mutation
KW  - RNA, Messenger
KW  - biosynthesis
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Transcription, Genetic
KW  - alpha-Galactosidase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2008.109
ER  -