Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
Quane, K. A, Healy, J.M.S, Keating, K. E, Manning, B. M, Couch, F. J, Palmucci, L. M, Doriguzzi, C, Fagerlund, T. H, Berg, K, Ording, H, Bendixen, D, Mortier, W, Linz, U, Muller, C. R, McCarthy, T. V
Published in Nature genetics (01.09.1993)
Published in Nature genetics (01.09.1993)
Get full text
Journal Article
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis
TILGEN, Nikola, ZORZATO, Francesco, TREVES, Susan, HALLIGER-KELLER, Birgit, MUNTONI, Francesco, SEWRY, Caroline, PALMUCCI, Laura M, SCHNEIDER, Christiane, HAUSER, Erwin, LEHMANN-HORN, Frank, MÜLLER, Clemens R
Published in Human molecular genetics (01.12.2001)
Published in Human molecular genetics (01.12.2001)
Get full text
Journal Article
Multipoint Mapping of the Central Core Disease Locus
Schwemmle, S., Wolff, K., Palmucci, L.M., Grimm, T., Lehmann-Horn, F., Hübner, Ch, Hauser, E., Iles, D.E., MacLennan, D.H., Müller, C.R.
Published in Genomics (San Diego, Calif.) (01.07.1993)
Published in Genomics (San Diego, Calif.) (01.07.1993)
Get full text
Journal Article