<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population
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چکیده
منابع مشابه
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
PURPOSE In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysi...
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Pneumoviruses are responsible for significant respiratory disease in their hosts and represent a major problemfor human and animal health. Pneumoviruses are members of the family Paramyxoviridae, subfamilyPneumovirinae and the virus particles consist of a negative-sense, nonsegmented RNA genome within a helical nucleocapsid structure enveloped in a lipid membrane derived from the ho...
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BACKGROUND Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis is essential to identify subjects at risk in each family. The spectrum of disease-causing mutations in the Portuguese population is unknown. METHODS Seventy-seven unrelated probands with hypertrophic cardiomyopathy were systematicall...
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Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by pr...
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The study of evolutionary biology is commonly divided into two components: study of the processes by which evolutionary change occurs and study of the patterns produced by those processes. By “pattern” we mean primarily the pattern of phylogenetic relationships among species or genes. Studies of evolutionary processes often don’t often devote too much attention to evolutionary patterns, except ...
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ژورنال
عنوان ژورنال: Open Journal of Genetics
سال: 2018
ISSN: 2162-4453,2162-4461
DOI: 10.4236/ojgen.2018.84008