Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy-Reference-Cited by-同舟云学术

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

Published:2022-03-07 Issue:4 Volume:43 Page:511-528
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Waldrop Megan A.¹²³^ORCID,Moore Steven A.⁴,Mathews Katherine D.⁵,Darbro Benjamin W.⁵,Medne Livja⁶,Finkel Richard⁷,Connolly Anne M.⁸,Crawford Thomas O.⁹,Drachman Daniel⁹,Wein Nicolas¹,Habib Ali A.¹⁰,Krzesniak‐Swinarska Monika A.¹¹,Zaidman Craig M.⁸,Collins James J.¹²,Jokela Manu¹³¹⁴,Udd Bjarne¹³,Day John W.¹⁵,Ortiz‐Guerrero Gloria¹⁶,Statland Jeff¹⁶,Butterfield Russell J.¹⁷^ORCID,Dunn Diane M.¹⁸,Weiss Robert B.¹⁷¹⁸,Flanigan Kevin M.¹²³^ORCID

Affiliation:

1. The Center for Gene Therapy Nationwide Children's Hospital Columbus Ohio USA

2. Department of Neurology The Ohio State University Columbus Ohio USA

3. Department of Pediatrics The Ohio State University Columbus Ohio USA

4. Department of Pathology The University of Iowa Iowa City Iowa USA

5. Depatment of Pediatrics The University of Iowa Iowa City Iowa USA

6. Department of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

7. Department of Neurology Nemours Children's Hospital Orlando Florida USA

8. Department of Neurology Washington University Saint Louis Missouri USA

9. Department of Neurology Johns Hopkins University Baltimore Maryland USA

10. Department of Neurology Columbia University New York New York USA

11. Department of Neurology University of New Mexico Health Sciences Center Albuquerque New Mexico USA

12. Department of Pediatric Neurology Mercy Hospitals Springfield Missouri USA

13. Neuromuscular Research Center Tampere University Hospital and University of Tampere Tampere Finland

14. Division of Clinical Neurosciences Turku University Hospital and University of Turku Turku Finland

15. Department of Neurology University of Minnesota Medical Center Minneapolis Minnesota USA

16. Department of Neurology University of Kansas Kansas City Kansas USA

17. Department of Pediatrics The University of Utah School of Medicine Salt Lake City Utah USA

18. Department of Human Genetics The University of Utah School of Medicine Salt Lake City Utah USA

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24343

Reference65 articles.

1. Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule

2. Comparative analysis of RNA sequencing methods for degraded or low-input samples

3. POLYAR, a new computer program for prediction of poly(A) sites in human sequences

4. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

5. Biochemical Characterization of Patients With In-Frame or Out-of-FrameDMDDeletions Pertinent to Exon 44 or 45 Skipping

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