Výsledky vyhledávání - "T. H. H. Goebel"

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation

Autor: B. Reitter, Socrates J. Tzartos, B. Schrank, S. Kraner, Ortrud K. Steinlein, J. P. Sieb, T. H. H. Goebel

Publikováno v: Annals of Neurology. 48:379-383

Recently, a congenital myasthenic syndrome (CMS) with end-plate acetylcholine receptor (AChR) deficiency due to missense mutations in the genes for the AChR subunit was described. The first observed patient with this CMS was heteroallelic for the two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3bd16aced57d7bbad000305db4c58624
https://doi.org/10.1002/1531-8249(200009)48:3<379::aid-ana14>3.0.co

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