@article{dc7a57758fdd40ed8329eb168e5435c1,
title = "Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)",
keywords = "Long-read sequencing, PacBio, single molecule real time, splicing, complementary DNA, Article, Becker muscular dystrophy, DMD gene, DNA determination, DNA sequencing, Duchenne muscular dystrophy, gene, gene identification, human, human tissue, missense mutation, muscle biopsy, neurofibromatosis type 1, NF1 gene, priority journal, reverse transcription polymerase chain reaction, RNA analysis, single nucleotide polymorphism, SMRT sequencing, splicing defect, TTN gene, workflow, 1184 Genetics, developmental biology, physiology",
author = "M. Savarese and T. Qureshi and A. Torella and P. Laine and T. Giugliano and P.H. Jonson and M. Johari and L. Paulin and G. Piluso and P. Auvinen and V. Nigro and Bjarne Udd and P. Hackman",
year = "2020",
doi = "10.3233/JND-200523",
language = "English",
volume = "7",
pages = "477--481",
journal = "Journal of Neuromuscular Diseases",
issn = "2214-3599",
publisher = "IOS PRESS",
number = "4",
}