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New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

OBJECTIVE: The objective of this study was to validate the immunohistochemical assay for the diagnosis of nondystrophic myotonia and to provide full clarification of clinical disease to patients in whom basic genetic testing has failed to do so. METHODS: An immunohistochemical assay of sarcolemmal c...

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Main Authors: Raheem, Olayinka, Penttilä, Sini, Suominen, Tiina, Kaakinen, Mika, Burge, James, Haworth, Andrea, Sud, Richa, Schorge, Stephanie, Haapasalo, Hannu, Sandell, Satu, Metsikkö, Kalervo, Hanna, Michael, Udd, Bjarne
格式: Artigo
語言:Inglês
出版: Lippincott Williams & Wilkins 2012
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570820/
https://ncbi.nlm.nih.gov/pubmed/23152584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31827595e2
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