Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly-Reference-Cited by-同舟云学术

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

Published:2019-09 Issue:3 Volume:105 Page:573-587
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Bryen Samantha J.,Joshi Himanshu,Evesson Frances J.,Girard Cyrille,Ghaoui Roula,Waddell Leigh B.,Testa Alison C.,Cummings Beryl,Arbuckle Susan,Graf Nicole,Webster Richard,MacArthur Daniel G.,Laing Nigel G.,Davis Mark R.,Lührmann Reinhard,Cooper Sandra T.

Funder

National Health and Medical Research Council of Australia

Muscular Dystrophy New South Wales PhD scholarship

National Human Genome Research Institute

National Eye Institute

National Heart, Lung and Blood Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases;Schofield;NPJ Genom. Med.,2017