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Utilidad del diagnóstico genético en la miocardiopatía hipertrófica de una mujer que desea ser madre: la información es clave
| Content Provider | Semantic Scholar |
|---|---|
| Author | Barriales-Villa, Roberto García-Giustiniani, Diego Ortiz-Genga, Martin Monserrat, Lorenzo |
| Copyright Year | 2014 |
| Abstract | 1. Villacorta E, Zatarain-Nicolás E, Fernández-Pena L, Pérez-Milán F, Sánchez PL, Fernández-Avilés F. Utilidad del diagnóstico genético en la miocardiopatı́a hipertrófica de una mujer que desea ser madre. Rev Esp Cardiol. 2014;67:148–50. 2. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:1903–10. 3. Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding Sequence Rare Variants Identified in MYBPC3, MYH6, TPM1, TNNC1 and TNNI3 from 312 Patients with Familial or Idiopathic Dilated Cardiomyopathy. Circ Cardiovasc Genet. 2010;3:155–6. 4. Keeling AN, Carr JC, Choudhury L. Right ventricular hypertrophy and scarring in mutation positive hypertrophic cardiomyopathy. Eur Heart J. 2010;31:381. 5. Probst S, Oechslin E, Schuler P, Greutmann M, Boyé P, Knirsch W, et al. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet. 2011;4:367–74. 6. Exome Variant Server. Seattle: NHLBI GO Exome Sequencing Project (ESP); 2013 [Citado Nov 2013]. Disponible en: http://evs.gs.washington.edu/EVS/. |
| Starting Page | 333 |
| Ending Page | 334 |
| Page Count | 2 |
| File Format | PDF HTM / HTML |
| DOI | 10.1016/j.recesp.2013.11.014 |
| Volume Number | 67 |
| Alternate Webpage(s) | https://www.revespcardiol.org/index.php?p=revista&pii=S0300893214000839&tipo=pdf-simple |
| Alternate Webpage(s) | https://doi.org/10.1016/j.recesp.2013.11.014 |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |