Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database
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Title
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database
Authors
Keywords
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Journal
Orphanet Journal of Rare Diseases
Volume 7, Issue 1, Pages 45
Publisher
Springer Nature
Online
2012-07-09
DOI
10.1186/1750-1172-7-45
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Note: Only part of the references are listed.- Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
- (2011) Francesca Magri et al. JOURNAL OF NEUROLOGY
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- (2011) Sebahattin Cirak et al. LANCET
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- (2011) Nathalie M. Goemans et al. NEW ENGLAND JOURNAL OF MEDICINE
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- Dystrophin: More than just the sum of its parts
- (2010) Elisabeth Le Rumeur et al. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
- I-TASSER: a unified platform for automated protein structure and function prediction
- (2010) Ambrish Roy et al. Nature Protocols
- The 8th and 9th tandem spectrin-like repeats of utrophin cooperatively form a functional unit to interact with polarity-regulating kinase PAR-1b
- (2009) Kazunari Yamashita et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
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- (2009) Rita Wen Kaspar et al. Circulation-Cardiovascular Genetics
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
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