Identification of New Polymorphisms in theCACNA1S Gene
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| 024 | 7 | 0 | |a 10.1515/CCLM.2003.004 |2 doi |
| 035 | |a (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.004 | ||
| 245 | 0 | 0 | |a Identification of New Polymorphisms in theCACNA1S Gene |h [Elektronische Daten] |c [Antonella Carsana, Giuliana Fortunato, Claudia De Sarno, Virginia Brancadoro, Francesco Salvatore] |
| 520 | 3 | |a 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. | |
| 540 | |a Copyright © 2003 by Walter de Gruyter GmbH & Co. KG | ||
| 690 | 7 | |a Medical equipment & techniques |2 nationallicence | |
| 690 | 7 | |a Medical diagnosis |2 nationallicence | |
| 690 | 7 | |a Diseases & disorders |2 nationallicence | |
| 700 | 1 | |a Carsana |D Antonella |4 aut | |
| 700 | 1 | |a Fortunato |D Giuliana |4 aut | |
| 700 | 1 | |a De Sarno |D Claudia |4 aut | |
| 700 | 1 | |a Brancadoro |D Virginia |4 aut | |
| 700 | 1 | |a Salvatore |D Francesco |4 aut | |
| 773 | 0 | |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 41/1(2003-01-27), 20-22 |x 1434-6621 |q 41:1<20 |1 2003 |2 41 |o cclm | |
| 856 | 4 | 0 | |u https://doi.org/10.1515/CCLM.2003.004 |q text/html |z Onlinezugriff via DOI |
| 908 | |D 1 |a research article |2 jats | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1515/CCLM.2003.004 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Carsana |D Antonella |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Fortunato |D Giuliana |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a De Sarno |D Claudia |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Brancadoro |D Virginia |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Salvatore |D Francesco |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 41/1(2003-01-27), 20-22 |x 1434-6621 |q 41:1<20 |1 2003 |2 41 |o cclm | ||
| 900 | 7 | |b CC0 |u http://creativecommons.org/publicdomain/zero/1.0 |2 nationallicence | |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-gruyter | ||