DOCKopathies: A systematic review of the clinical pathologies associated with human <i>DOCK</i> pathogenic variants-Reference-Cited by-同舟云学术

DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants

Published:2022-05-20 Issue:9 Volume:43 Page:1149-1161
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Samani Adrienne¹,English Katherine G.¹,Lopez Michael A.¹,Birch Camille L.²³,Brown Donna M.²³,Kaur Gurpreet²³,Worthey Elizabeth A.²³,Alexander Matthew S.¹⁴⁵⁶⁷^ORCID

Affiliation:

1. Department of Pediatrics Division of Neurology at the University of Alabama at Birmingham and Children's of Alabama Birmingham Alabama USA

2. Department of Pediatrics Division of Pediatric Hematology and Oncology at the University of Alabama at Birmingham and Children's of Alabama Birmingham Alabama USA

3. Center for Computational Genomics and Data Science at Children's of Alabama Birmingham Alabama USA

4. UAB Center for Exercise Medicine at the University of Alabama at Birmingham Birmingham Alabama USA

5. Department of Genetics at the University of Alabama at Birmingham Birmingham Alabama USA

6. UAB Civitan International Research Center (CIRC), at the University of Alabama at Birmingham Birmingham Alabama USA

7. UAB Center for Neurodegeneration and Experimental Therapeutics (CNET) Birmingham Alabama USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Neurological Disorders and Stroke

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24398

Reference28 articles.

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4. Multiple exon skipping strategies to by-pass dystrophin mutations

5. In vivo CRISPR editing with no detectable genome-wide off-target mutations

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