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Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.
Buckle VJ,
Fujita N,
Ryder-Cook AS,
Derry JM,
Barnard PJ,
Lebo RV,
Schofield PR,
Seeburg PH,
Bateson AN,
Darlison MG, et al.
Nuffield Department of Clinical Medicine, University of Oxford, England.
Hybridization of GABAA receptor probes to human chromosomes in situ and to DNA from sorted human chromosomes has localized the genes encoding a beta subunit and three isoforms of the alpha subunit. The alpha 2 and beta genes are both located on chromosome 4 in bands p12-p13 and may be adjacent. The alpha 1 gene is on chromosome 5 (bands q34-q35) and the alpha 3 gene is on the X chromosome. The alpha 3 locus was mapped also on the mouse X chromosome using genetic break-point analysis in an interspecies pedigree. The combined results locate the human alpha 3 gene within band Xq28, in a location that makes it a candidate gene for the X-linked form of manic depression.
PMID: 2561974 [PubMed - indexed for MEDLINE]
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Cited by 14 PubMed Central articles
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A sequence-ready BAC contig of the GABAA receptor gene cluster Gabrg1-Gabra2-Gabrb1 on mouse chromosome 5.
Lengeling A, Wiltshire T, Otmani C, Bucán M.
Genome Res. 1999 Aug; 9(8):732-8.
[Genome Res. 1999]
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PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
Lindsay S, Splitt M, Edney S, Berney TP, Knight SJ, Davies KE, O'Brien O, Gale M, Burn J.
Am J Hum Genet. 1996 Jun; 58(6):1120-6.
[Am J Hum Genet. 1996]
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A genome-wide search for genes predisposing to manic-depression, assuming autosomal dominant inheritance.
Coon H, Jensen S, Hoff M, Holik J, Plaetke R, Reimherr F, Wender P, Leppert M, Byerley W.
Am J Hum Genet. 1993 Jun; 52(6):1234-49.
[Am J Hum Genet. 1993]
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