Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

Samantha J. Bryen(The University of Sydney), Himanshu Joshi(Children's Hospital at Westmead), Frances J. Evesson(The University of Sydney), Cyrille Girard(Max Planck Institute for Biophysical Chemistry), Roula Ghaoui(The University of Sydney), Leigh B. Waddell(The University of Sydney), Alison C. Testa(The University of Western Australia), Beryl B. Cummings(Broad Institute), Susan Arbuckle(Children's Hospital at Westmead), Nicole Graf(Children's Hospital at Westmead), Richard Webster(Children's Hospital at Westmead), Daniel G. MacArthur(Broad Institute), Nigel G. Laing(The University of Western Australia), Mark R. Davis(Queen Elizabeth II Medical Centre), Reinhard Lührmann(Max Planck Institute for Biophysical Chemistry), Sandra T. Cooper(The University of Sydney)
The American Journal of Human Genetics
August 22, 2019
Cited by 36Open Access
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