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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2003-9-23
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pubmed:abstractText |
A missense variant (R83H) of the gene (KCNE3) encoding a potassium channel-associated peptide, MinK-related peptide 2 (MiRP2), has been reported in periodic paralysis patients. In the current study, no difference in the frequency of the MiRP2-R83H variant between periodic paralysis patients and healthy individuals was found. Furthermore, there was no segregation of this gene variant with the disease. These observations weaken the proposal that MiRP2-R83H causes periodic paralysis.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
23
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
857-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14504341-Adult,
pubmed-meshheading:14504341-Amino Acid Substitution,
pubmed-meshheading:14504341-Child,
pubmed-meshheading:14504341-Chromosome Segregation,
pubmed-meshheading:14504341-Female,
pubmed-meshheading:14504341-Humans,
pubmed-meshheading:14504341-Hypokalemic Periodic Paralysis,
pubmed-meshheading:14504341-Male,
pubmed-meshheading:14504341-Mutation, Missense,
pubmed-meshheading:14504341-Paralyses, Familial Periodic,
pubmed-meshheading:14504341-Paralysis, Hyperkalemic Periodic,
pubmed-meshheading:14504341-Pedigree,
pubmed-meshheading:14504341-Point Mutation,
pubmed-meshheading:14504341-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:14504341-Potassium Channels,
pubmed-meshheading:14504341-Potassium Channels, Voltage-Gated,
pubmed-meshheading:14504341-Sodium Channels,
pubmed-meshheading:14504341-Thyrotoxicosis
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pubmed:year |
2003
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pubmed:articleTitle |
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
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pubmed:affiliation |
Federations of Biochemistry, Centre hospitalier universitaire Pitié-Salpêtrière, Assistance publique-hôpitaux de Paris et Université Paris VI, Paris, France.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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