Source:http://linkedlifedata.com/resource/pubmed/id/19226700
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2009-2-17
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pubmed:abstractText |
Prior to the discovery of chloride channel Kb with a variant threonine change to serine at position 481 (CLCNKB-T481S) there were no variants or clinical disorders associated with gain-of-function defects in thick ascending limb of the kidney channels or transporters. CLCNKB-T481S is a novel gain-of-function variant that has been associated with essential hypertension. This finding has not been replicated until our current study. In this study, we re-examined CLCNKB-T481S using a large homogenous population from Ghana, and coupled genetic analyses with the functional characterization of this polymorphism using a mammalian expression system.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0263-6352
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
298-304
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pubmed:meshHeading |
pubmed-meshheading:19226700-Adult,
pubmed-meshheading:19226700-African Continental Ancestry Group,
pubmed-meshheading:19226700-Amino Acid Substitution,
pubmed-meshheading:19226700-Cell Line,
pubmed-meshheading:19226700-Chloride Channels,
pubmed-meshheading:19226700-Electrophysiology,
pubmed-meshheading:19226700-European Continental Ancestry Group,
pubmed-meshheading:19226700-Female,
pubmed-meshheading:19226700-Genotype,
pubmed-meshheading:19226700-Ghana,
pubmed-meshheading:19226700-Humans,
pubmed-meshheading:19226700-Hypertension,
pubmed-meshheading:19226700-Logistic Models,
pubmed-meshheading:19226700-Male,
pubmed-meshheading:19226700-Middle Aged,
pubmed-meshheading:19226700-Polymorphism, Genetic
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pubmed:year |
2009
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pubmed:articleTitle |
CLCNKB-T481S and essential hypertension in a Ghanaian population.
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pubmed:affiliation |
Department of Medicine, Division of Genetic Medicine, Vanderbilt University, Nashville, Tennessee 37232-0275, USA. saba.sile@vanderbilt.edu
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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