Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.

Emanuela AbiusiAlessandro VaisfeldStefania FioriAgnese NovelliSerena SpartanoMaria Vittoria FaggianoTeresa GiovannielloAntonio AngeloniGiovanni VentoRoberta SantolociFrancesca GigliAdele D'AmicoSimonetta CostaAlessia PorziMara PanellaChiara TicciMarta DaniottiMichele SacchiniIlaria BoschiEnrico BertiniAntonio LanzoneGiancarlo LamarcaMaurizio GenuardiMarika PaneMaria Alice DonatiEugenio MercuriDanilo Francesco Tizianonull null

Published in: Journal of medical genetics (2022)

splicing-modifier variants should be routinely tested in SMA-NBS.

Keyphrases

copy number
clinical practice
single molecule
gene expression
dna methylation
genome wide