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Frances J Evesson on Muck Rack

Frances J Evesson

As seen in: Neurology, The Journal of Biological Chemistry
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Articles

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

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By Leigh B. Waddell, Samantha J. Bryen, Adam Bournazos, Frances J Evesson
| Neurology Verified
Abstract Objective To describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield a genetic diagnosis, and to use remnant normal DMD splicing in 3 families to define critical levels of wild-type dystrophin bridging clinical spectrums of Duchenne to myalgia.
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Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P

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By Natalie Woolger, Adam Bournazos, Reece A Sophocleous, Frances J Evesson
| The Journal of Biological Chemistry Verified
Dysferlin is a large transmembrane protein that plays a key role in cell membrane repair and underlies a recessive form of inherited muscular dystrophy. Dysferlinopathy is characterized by absence or marked reduction of dysferlin protein with 43% of reported pathogenic variants being missense variants that span the length of the dysferlin protein.
Open in Who Shared Issue with article?

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P

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By Natalie Woolger, Adam Bournazos, Reece A Sophocleous, Frances J Evesson
| The Journal of Biological Chemistry Verified
Dysferlin is a large transmembrane protein that plays a key role in cell membrane repair, and underlies a recessive form of inherited muscular dystrophy. Dysferlinopathy is characterized by absence or marked reduction of dysferlin protein, with 43% of reported pathogenic variants being missense variants that span the length of the dysferlin protein.
Open in Who Shared Issue with article?
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