Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Ines Garcia-ConsuegraAlberto Blázquez-EncinarJuan Carlos RubioJoaquín ArenasAlfonsina Ballester-LopezAdrián González-QuintanaAntoni L AndreuTomàs PinósJaume Coll-CantíAlejandro LuciaGisela Nogales-GadeaMiguel Angel MartinPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
We propose considering the use of PBMCs for detecting mutations that are thought to cause McArdle disease, particularly for studying their actual pathogenicity.Genet Med 18 11, 1128-1135.