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Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping.
Department of Pediatrics, University of Wisconsin, Madison 53705.
A human clone containing a portion of the gene encoding several isoforms of the beta 1 subunit of voltage-dependent calcium channels was isolated and partially sequenced. The gene was mapped to chromosome 17 using the polymerase chain reaction with oligonucleotides that allowed the specific amplification of the human sequence in the human-rodent hybrids. A polymorphic dinucleotide repeat was identified within the gene and typed on a subset of the CEPH families. Using multipoint linkage analysis the most likely location of the beta 1 subunit gene is between D17S36 and NGFR on chromosome 17q11.2-q22.
PMID: 8381767 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication.
Burgess DL, Davis CF, Gefrides LA, Noebels JL.
Genome Res. 1999 Dec; 9(12):1204-13.
[Genome Res. 1999]
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Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.
Monnier N, Procaccio V, Stieglitz P, Lunardi J.
Am J Hum Genet. 1997 Jun; 60(6):1316-25.
[Am J Hum Genet. 1997]
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Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.
Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C, Ellis R, Heyetens L, Hartung EJ, Kozak-Ribbens G.
Am J Hum Genet. 1995 Mar; 56(3):684-91.
[Am J Hum Genet. 1995]