Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD
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چکیده
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Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD)
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing...
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Abstract Background and Objective: Highly Active Antiretroviral Therapy (HAART) can effectively prevent the progression of HIV-1 replication and increase life expectancy. There are numerous causes of treatment failure and the leading one is drug resistance. Thus, we aimed to determine the HIV RT gene drug resistance mutations in patients treated with antiretroviral medications. Material...
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چکیده ندارد.
15 صفحه اولGene mutations in adult Japanese patients with dilated cardiomyopathy.
BACKGROUND Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear. METHODS AND RESULTS A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardia...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2008
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2008.175