Article

Functional implications of Fkrp deficiency

2013-01-01

Abstract excerpt

Mutations in FKRP (fukutin related protein) are associated with the dystroglycanopathies, a group of neuromuscular conditions with a spectrum of clinical phenotypes. However, as there is currently no method for detecting Fkrp expression, or measuring its activity, the function has not been fully elucidated. Here, the implications of Fkrp deficiency have been evaluated to provide further insight into the role of th...

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Literature Corpus work: 1cb58dfc-3555-5fd6-a80d-0e669ef1a53d
DOI: 10.25560/40172

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