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Expression analysis in the per...
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Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1
Dades bibliogràfiques
Autors principals:
Previtali, S
,
Zerega, B
,
Sherman, D
,
Brophy, P
,
Dina, G
,
King, R
,
Salih, M
,
Feltri, L
,
Quattrini, A
,
Wrabetz, A
,
Monaco, A
,
Bolino, A
Format:
Conference item
Publicat:
2003
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Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
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Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
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DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B.
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
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