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Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
Objective: To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM). Methods: Genetic screening of seven HCM genes (ß-MHC, MyBP-C, cTnT, cTnI, ACTC, MYL2, and MYL3) was undertaken in 80 unrelated probands. Screening was...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2005
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735926/ https://ncbi.nlm.nih.gov/pubmed/16199542 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033886 |
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