Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families-Reference-Cited by-同舟云学术

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

Published:1994-03 Issue:3 Volume:6 Page:267-272
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Fontaine B.,Vale-Santos J.,Jurkat-Rott K.,Reboul J.,Plassart E.,Rime C-S.,Elbaz A.,Heine R.,Guimarães J.,Weissenbach J.,Baumann N.,Fardeau M.,Lehmann-Horn F.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0394-267.pdf

Reference35 articles.

1. Rojas, C.V. et al. A Met-to Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalemic periodic paralysis. Nature 354, 387–389 (1991).

2. Ptàcek, L.J. et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67, 1021–1027 (1991).

3. McClatchey, A.I. et al. Temperature-sensitive mutations in the III-IV cytopiasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 68, 769–774 (1992).

4. Ptàcek, L.J. et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 8, 891–897 (1992).

5. Heine, R., Pika, U. & Lehmann-Horn, F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. molec. Genet. 2, 1349–1353 (1993).

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