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Long QT Syndrome--Associated Mutations in Intrauterine Fetal Death.
- Source :
-
JAMA: Journal of the American Medical Association . 4/10/2013, Vol. 309 Issue 14, p1473-1482. 10p. - Publication Year :
- 2013
-
Abstract
- The article discusses research which examined the spectrum and prevalence of mutations in the three most common long QT syndrome (LQTS) susceptible genes. Intrauterine fetal death or stillbirth accounts for 50% of perinatal deaths. A total of 91 unexplained intrauterine fetal deaths are considered in the study. Denaturing high-performance liquid chromatography and direct DNA sequencing were used for mutational analyses of the genes. Findings revealed the association of missense mutations with LQTS susceptibility in three cases. In addition, genetic variants leading to dysfunctional LQTS-associated ion channels were found in 8 cases.
Details
- Language :
- English
- ISSN :
- 00987484
- Volume :
- 309
- Issue :
- 14
- Database :
- Academic Search Index
- Journal :
- JAMA: Journal of the American Medical Association
- Publication Type :
- Academic Journal
- Accession number :
- 86742552
- Full Text :
- https://doi.org/10.1001/jama.2013.3219