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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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Detaylı Bibliyografya
Asıl Yazarlar: Ingles, J, Doolan, A, Chiu, C, Seidman, J, Seidman, C, Semsarian, C
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2005
Konular:
Online Erişim: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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