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Researchers explore the prevalence of rare genetic forms of obesity in a United Kingdom-based clinical obesity cohort.
/PRNewswire/ -- The Global Metagenomics Market size is expected to reach $3.2 billion by 2028, rising at a market growth of 13.6% CAGR during the forecast...
Identify pathogenic mutation of the NF1 gene in a pedigree of NF1
Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in glycosaminoglycan (s) (GAGs) metabolism. Here we present the results study of ARSB DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found. The most prevalent nucleotide changes included c.194C>T (Ser65Phe) and c.454C>T ...