Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci

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Serval ID
serval:BIB_7A6C50E5DE45
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci
Journal
Genomics
Author(s)
Casley  W. L., Allon  M., Cousin  H. K., Ting  S. S., Crackower  M. A., Hashimoto  L., Cornelis  F., Beckmann  J. S., Hudson  A. J., Ebers  G. C.
ISSN
0888-7543 (Print)
Publication state
Published
Issued date
10/1992
Volume
14
Number
2
Pages
493-4
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Oct
Abstract
Hypokalemic periodic paralysis (HOKPP) is an autosomal dominant neuromuscular disorder characterized by flaccid paralysis accompanied by lowered serum potassium levels. We have tested polymorphic markers linked to the adult skeletal muscle sodium channel (SCN4A) locus at 17q23-q25, the T-cell receptor beta (TCRB) locus at 7q35, and the H-Ras cellular proton-cogene locus (HRAS) at 11p15.5 for linkage with the affected phenotype in a single multigenerational pedigree. No evidence for genetic linkage to HOKPP was found at any of the candidate loci.
Keywords
Chromosome Mapping Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 7 Humans Hypokalemia/*genetics *Linkage (Genetics) Muscles/metabolism Paralyses, Familial Periodic/*genetics Phenotype Polymorphism, Genetic Receptors, Antigen, T-Cell, alpha-beta/genetics Sodium Channels/genetics
OAI-PMH
oai:serval.unil.ch:BIB_7A6C50E5DE45
DOI
10.1016/S0888-7543(05)80249-6
Pubmed
1330884
Web of science
A1992JR69700042
Create date
25/01/2008 17:17
Last modification date
20/08/2019 15:36
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