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Article

Identification of new polymorphisms in the CACNA1S gene.

Clinical chemistry and laboratory medicine - 1 Jan 2003

Carsana Antonella, Fortunato Giuliana, De Sarno Claudia, Brancadoro Virginia, Salvatore Francesco

Abstract excerpt

We identified four novel polymorphisms in the CACNA1S gene that encodes the alpha1-subunit of the dihydropyridine receptor. Mutations in this gene are associated with two genetic diseases: malignant hyperthermia and hypokalemic periodic paralysis. The nucleotide substitutions c2403T --> C and c5398T --> C did not result in amino acid replacement, the nucleotide substitution c4475C --> A caused the replacement of...

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Identifiers

PMID: 12636044
DOI: 10.1515/CCLM.2003.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of new polymorphisms in the CACNA1S gene.PMID 12636044Read ↗

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Novel CACNA1S mutation in hypokalaemic periodic paralysis.Semantic proximity Read ↗

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A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.Semantic proximity Read ↗

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Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.Semantic proximity Read ↗

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