PMC Links for Protein (Select 5032297) - PMC

Select item 69813231.

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, Harumasa Nakamura, Hirofumi Komaki, Masafumi Matsuo, Ichizo Nishino

Hum Genet. 2020; 139(2): 247–255. Published online 2020 Jan 9. doi: 10.1007/s00439-019-02107-4

PMCID:: PMC6981323

Abstract Article PDF–833K

Select item 69514102.

Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries

Khine Zaw, Kane Greer, May Thandar Aung-Htut, Chalermchai Mitrpant, Rakesh N. Veedu, Sue Fletcher, Steve D. Wilton

Front Genet. 2019; 10: 1249. Published online 2019 Dec 20. doi: 10.3389/fgene.2019.01249

PMCID:: PMC6951410

Abstract Article PDF–1.4M

Select item 68959153.

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García

Genes (Basel) 2019 Nov; 10(11): 856. Published online 2019 Oct 29. doi: 10.3390/genes10110856

PMCID:: PMC6895915

Abstract Article PDF–783K

Select item 492884.

A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.

D Lederfein, Z Levy, N Augier, D Mornet, G Morris, O Fuchs, D Yaffe, U Nudel

Proc Natl Acad Sci U S A. 1992 Jun 15; 89(12): 5346–5350. doi: 10.1073/pnas.89.12.5346

PMCID:: PMC49288

Summary Page Browse PDF–1016K

Select item 37488295.

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean-Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler, Elisabeth Le Rumeur

Orphanet J Rare Dis. 2012; 7: 45. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-45

PMCID:: PMC3748829

Abstract Article PDF–1.4M

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