caa a22 4500 378869663 CHVBK 20180305123406.0 cr unu---uuuuu 161128e20030127xx s 000 0 eng 10.1515/CCLM.2003.004 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.004 Identification of New Polymorphisms in theCACNA1S Gene [Elektronische Daten] [Antonella Carsana, Giuliana Fortunato, Claudia De Sarno, Virginia Brancadoro, Francesco Salvatore] We identified four novel polymorphisms in the CACNA1S gene that encodes the α1-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 the Ala1492 with an Asp residue and an A insertion was identified in intron 36. By using methods based on digestion with restriction enzymes we calculated the frequencies of these novel polymorphisms, as well as heterozygosity, in normal subjects from southern Italy. Copyright © 2003 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Carsana Antonella aut Fortunato Giuliana aut De Sarno Claudia aut Brancadoro Virginia aut Salvatore Francesco aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/1(2003-01-27), 20-22 1434-6621 41:1<20 2003 41 cclm https://doi.org/10.1515/CCLM.2003.004 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2003.004 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Carsana Antonella aut NATIONALLICENCE 700 1- Fortunato Giuliana aut NATIONALLICENCE 700 1- De Sarno Claudia aut NATIONALLICENCE 700 1- Brancadoro Virginia aut NATIONALLICENCE 700 1- Salvatore Francesco aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/1(2003-01-27), 20-22 1434-6621 41:1<20 2003 41 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter