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Titolo:
Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (K(ir)7.1) gene (KCNJ13)
Autore:
Derst, C; Doring, F; Preisig-Muller, R; Daut, J; Karschin, A; Jeck, N; Weber, S; Engel, H; Grzeschik, KH;
Indirizzi:
Univ Marburg, Inst Normal & Pathol Physiol, D-35033 Marburg, Germany Univ Marburg Marburg Germany D-35033 l Physiol, D-35033 Marburg, Germany Univ Marburg, Dept Pediat, D-35033 Marburg, Germany Univ Marburg MarburgGermany D-35033 pt Pediat, D-35033 Marburg, Germany Univ Marburg, Inst Human Genet, D-35033 Marburg, Germany Univ Marburg Marburg Germany D-35033 man Genet, D-35033 Marburg, Germany Max Planck Inst Biophys Chem, D-37070 Gottingen, Germany Max Planck Inst Biophys Chem Gottingen Germany D-37070 ottingen, Germany
Titolo Testata:
GENOMICS
fascicolo: 3, volume: 54, anno: 1998,
pagine: 560 - 563
SICI:
0888-7543(199812)54:3<560:PGSAAT>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
POTASSIUM CHANNEL; FUNCTIONAL EXPRESSION; HUMAN GENOME; CLONING; HETEROGENEITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Derst, C Univ Marburg, Inst Normal & Pathol Physiol, D-35033 Marburg, Germany Univ Marburg Marburg Germany D-35033 , D-35033 Marburg, Germany
Citazione:
C. Derst et al., "Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (K(ir)7.1) gene (KCNJ13)", GENOMICS, 54(3), 1998, pp. 560-563

Abstract

The novel weakly inward rectifying potassium channel K(ir)7.1 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 K(ir)7.1 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 panelsassigns 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 ne residue at amino acid position 175, was found. (C) 1998 Academic Press.

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Documento generato il 02/12/20 alle ore 18:27:09