Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix

Autor: Macías M.J., Teijido O., Zifarelli G., Martin P., Ramirez-Espain X., Zorzano A., Palacín M., Pusch M., Estévez R.

Publikováno v: Biochemical journal (Lond., 1984) 403 (2007): 79–87.
info:cnr-pdr/source/autori:Macías M.J., Teijido O., Zifarelli G., Martin P., Ramirez-Espain X., Zorzano A., Palacín M., Pusch M., Estévez R./titolo:Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix./doi:/rivista:Biochemical journal (Lond., 1984)/anno:2007/pagina_da:79/pagina_a:87/intervallo_pagine:79–87/volume:403

Myotonia is a state of hyperexcitability of skeletal-muscle fibres. Mutations in the ClC-1 Cl- channel cause recessive and dominant forms of this disease. Mutations have been described throughout the protein-coding region, including three sequence va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::e55b4ff236bcc036787ee5e2c27f943b
http://www.cnr.it/prodotto/i/9600

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

Autor: Teijido O, Martinez A, Pusch M, Zorzano A, Soriano E, Del Rio JA, Palacin M, Estevez R.

Publikováno v: Human molecular genetics
13 (2004): 2581–2594.
info:cnr-pdr/source/autori:Teijido O, Martinez A, Pusch M, Zorzano A, Soriano E, Del Rio JA, Palacin M, Estevez R./titolo:Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts./doi:/rivista:Human molecular genetics (Print)/anno:2004/pagina_da:2581/pagina_a:2594/intervallo_pagine:2581–2594/volume:13

Mutations in the MLC1 gene are responsible for one form of the neurological disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). The disease is a type of vacuolating myelinopathy. The biochemical properties and the function of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::af9420f436142facd0df97e2b1ee5f5b
http://www.cnr.it/prodotto/i/9247

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.