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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1999-2-23
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pubmed:databankReference | |
pubmed:abstractText |
The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approach revealed a single 2088-bp intron in the coding region of KCNJ13. PCR analysis of monochromosomal and radiation hybrid panels assigns KCNJ13 to band 2q37 between markers D2S331 and D2S345. In addition, a single nucleotide polymorphism (C524-->T), leading to an exchange of a Thr with an Ile residue at amino acid position 175, was found.
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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 |
Dec
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pubmed:issn |
0888-7543
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 1998 Academic Press.
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
54
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
560-3
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9878260-Amino Acid Sequence,
pubmed-meshheading:9878260-Animals,
pubmed-meshheading:9878260-Bartter Syndrome,
pubmed-meshheading:9878260-Base Sequence,
pubmed-meshheading:9878260-Chromosomes, Human, Pair 2,
pubmed-meshheading:9878260-Cloning, Molecular,
pubmed-meshheading:9878260-Heterozygote,
pubmed-meshheading:9878260-Humans,
pubmed-meshheading:9878260-Hybrid Cells,
pubmed-meshheading:9878260-Molecular Sequence Data,
pubmed-meshheading:9878260-Mutation,
pubmed-meshheading:9878260-Physical Chromosome Mapping,
pubmed-meshheading:9878260-Polymerase Chain Reaction,
pubmed-meshheading:9878260-Polymorphism, Genetic,
pubmed-meshheading:9878260-Potassium Channels,
pubmed-meshheading:9878260-Potassium Channels, Inwardly Rectifying
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pubmed:year |
1998
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pubmed:articleTitle |
Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
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pubmed:affiliation |
Institute for Normal and Pathological Physiology, University of Marburg, Marburg, 35033, Germany. derst2@mailer.uni-marburg.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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