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Articles
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BMC Medical Genetics 2012, 13:17High resolution melting test for HCM
High resolution melting can provide a robust, quick and cheap means of genetic testing, demonstrated by application to detect variants linked to Hypertrophic Cardiomyopathy (HCM) in a Portuguese population with high sensitivity and a low false positive rate.
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BMC Medical Genetics 2012, 13:15MUC2 link to endometriosis
In addition to the previously known association with MUC1 and MUC4, polymorphisms in the mucin gene MUC2 are also associated with endometriosis and endometriosis-related infertility in Taiwanese women.
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BMC Medical Genetics 2012, 13:13FMR1 gene methylation not targeted by Fragile X drug
The beneficial effect of Fragile X syndrome (FXS) drug AFQ056 for patients with fully methylated FMR1 genes does not act through a secondary effects on FMR1 mRNA production or promoter methylation, in FXS lymphoblastoid cell lines.
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BMC Medical Genetics 2012, 13:41 (29 May 2012)
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BMC Medical Genetics is an open access, peer-reviewed journal that considers articles on the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
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