Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of receptor and non-receptor phosphotyrosine kinases. Recently, a skeletal muscle receptor tyrosine kinase (MuSK)-interacting cytoplasmic protein termed Dok-7 has been identified. Subsequently,...

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Príomhchruthaitheoirí: Müller, J, Herczegfalvi, A, Vilchez, J, Colomer, J, Bachinski, L, Mihaylova, V, Santos, M, Schara, U, Deschauer, M, Shevell, M, Poulin, C, Dias, A, Soudo, A, Hietala, M, Aärimaa, T, Krahe, R, Karcagi, V, Huebner, A, Beeson, D, Abicht, A, Lochmüller, H
Formáid: Journal article
Teanga:English
Foilsithe / Cruthaithe: 2007

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