A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing
A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing
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Publisher
New York, USA: Cambridge University Press
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Language
English
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Publisher
New York, USA: Cambridge University Press
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Contents
Western blot has limited sensitivity and specificity.2 Assays of calpain 3 proteolytic function are not widely available,2 nor are functional assays for most other proteins involved in inherited myopathies. While such variants are sometimes identified by DNA sequencing, their functional effects are often unknown, and many commercial laboratories th...
Alternative Titles
Full title
A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing
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Record Identifier
TN_cdi_proquest_miscellaneous_2423066463
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2423066463
Other Identifiers
ISSN
0317-1671
E-ISSN
2057-0155
DOI
10.1017/cjn.2020.141
