Although the arg468-to-trp mutation ( 300823.0012) was associated with a mild form of MPS II, Whitley et al. (1993) found very severe MPS II ( 309900) manifestations in a boy who was found to have a mutation in the same codon: a G-to-A transition at nucleotide 1403 of the IDS gene resulted in substitution of glutamine for arginine-468 (R468Q). In a note added in proof, it was reported that fibroblast cultures showed a large acrocentric supernumerary marker chromosome, which presumably was responsible for the quantitatively and qualitatively atypical features of the proband's face. The proband died at the age of 23 months. Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis. In an Italian mother and daughter with primary aldosteronism, Mulatero et al. (2012) identified heterozygosity for a missense mutation in the KCNJ5 gene (G151E; 600734.0005).

Identification of native atrial G-protein-regulated inwardly rectifying K+ (GIRK4) channel homomultimers. Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes. Fujian Start Group Co.Ltd signed a letter of intent to acquire 51% stake in Fujian Nebula Big Data Application Service Co., Ltd. from Fujian Big Data Co., Ltd. On termination of the contract for any reason the customer shall immediately pay to VWR all of its outstanding unpaid invoices and interest. Confidentiality Nothing in this contract shall limit or exclude VWR’s liability for death or personal injury caused by its negligence, fraud, fraudulent misrepresentation, or any other matter in respect of which it would be unlawful for VWR to exclude or restrict liability. Subject to this, in view of the responsibilities of the customer set out in the above paragraphs:Wraith, J. E., Cooper, A., Thornley, M., Wilson, P. J., Nelson, P. V., Morris, C. P., Hopwood, J. J. Sukegawa, K., Tomatsu, S., Tamai, K., Ikeda, M., Sasaki, T., Masue, M., Fukuda, S., Yamada, Y., Orii, T. Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

This variant is classified as a variant of unknown significance because its contribution to atrial fibrillation or hyperaldosteronism has not been confirmed.Any additional or special terms included by VWR in its written acceptance shall form part of the contract. The terms and conditions of the contract apply equally to the supply of both products and services except where application to one or the other is specified. Murthy et al. (2014) analyzed the KCNJ5 gene in 251 patients with apparent sporadic florid primary aldosteronism, and identified 3 heterozygous missense mutations, G247R ( rs200170681; 600734.0003), E246K ( 600734.0007), and R52H ( rs144062083). In addition, 12 (5%) of the 251 patients carried the rare SNP E282Q ( rs7102584), present at a population frequency of 2% in the 1000 Genomes cohort. Although remote from the KCNJ5 selectivity filter, 3 of the 4 variants (E246K, R52H, and E282Q) were shown to alter inward rectification, conduction of Na+ currents, and angiotensin II ( 106150)-induced aldosterone release in the H295R cell line, a well-established model for the human zona glomerulosa cell. Results of electrophysiologic analysis of the G247R channel, however, were indistinguishable from those of the wildtype channel. After exclusion of chimeric fusion of CYP11B1/CYP11B2 or mutation in the AT1R gene ( 106165) in a mother and daughter with severe aldosteronism requiring total adrenalectomy, Charmandari et al. (2012) sequenced the candidate genes KCNK3 ( 603220), KCNK5 ( 603493), KCNK9 ( 605874), and KCNJ5, and identified heterozygosity for a missense mutation in the KCNJ5 gene (I157S; 600734.0006). Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.