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Paper Details

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight
34
2019
COL6, COL6-RD, COL6A1, COL6A1 gene, COL6A1 mRNA, COL6A1 pseudoexon, Cas9, collagen VI, collagen VI-related dystrophy, in-frame pseudoexon, intronic sequence, muscle RNA, muscular dystrophy, mutant collagen 1(VI) protein, patient, patient-derived fibroblast cultures, patients, pseudoexon
Author NameAffiliation
Mike A NallsNational Institute of Neurological Disorders and Stroke
Mike A NallsNational Institute of Neurological Disorders and Stroke
Beryl B CummingsMassachusetts General Hospital
Beryl B CummingsBroad Institute of MIT and Harvard
Monkol LekMassachusetts General Hospital
Taru TukiainenMassachusetts General Hospital
Taru TukiainenBroad Institute of MIT and Harvard
Jamie L MarshallBroad Institute of MIT and Harvard
Anna SarkozyUCL Institute of Child Health & Great Ormond Street Hospital for Children
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurBroad Institute of MIT and Harvard
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurBroad Institute of MIT and Harvard
Francesco MuntoniUCL Institute of Child Health & Great Ormond Street Hospital for Children
Francesco MuntoniNIHR Great Ormond Street Hospital Biomedical Research Centre
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