The customer is responsible for unloading and transporting large and/or heavy items from delivery vans and for supervising the unloading of all other products delivered. Expression studies of two novel in cis-mutations identified in an intermediate case of Hunter syndrome. Vanadur Plus bismuth vanadate pigments are silica-encapsulated yellows in two shades. The encapsulation providing improved chemical and heat resistance. Authorisation to return products damaged during delivery must be requested within 3 days of delivery. VWR has the right to repair and return damaged products. VWR shall provide services to the customer in accordance with the specification agreed between them from time to time. Such services will be provided with all reasonable care and skill.

Charmandari, E., Sertedaki, A., Kino, T., Merakou, C., Hoffman, D. A., Hatch, M. M., Hurt, D. E., Lin, L., Xekouki, P., Stratakis, C. A., Chrousos, G. P. 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: Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.

Performance Comparison

Assignment of K(ATP)-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24. Kosuga, M., Mashima, R., Hirakiyama, A., Fuji, N., Kumagai, T., Seo, J.-H., Nikaido, M., Saito, S., Ohno, K., Sakuraba, H., Okuyama, T. The customer is required to ensure that the use of any products supplied by VWR does not infringe the intellectual property rights of any third party and the customer shall indemnify VWR against any claims made against VWR by any third party in relation to any such infringement or alleged infringement. In affected members of a large 4-generation Chinese family with autosomal dominant long QT syndrome (LQT13; 613485), Yang et al. (2010) identified heterozygosity for a 1473C-G transversion in the KCNJ5 gene, resulting in a gly387-to-arg (G387R) substitution at a highly conserved residue. The mutation, which was not found in 528 ethnically matched controls, was also detected in 2 asymptomatic family members, indicating incomplete penetrance. Patch-clamp studies in HEK293 cells cotransfected with Kir3.4 and Kir3.1 (KCNJ3; 601534) demonstrated that the mutant has a dominant-negative effect resulting in drastic reduction of inward currents compared to wildtype. In addition, plasma membrane and intracellular expression levels of Kir3.4 and Kir3.1 were markedly reduced in HEK293 cells cotransfected with the mutation compared to wildtype. Mulatero et al. (2012) analyzed the candidate gene KCNJ5 in 21 European families with primary hyperaldosteronism in which the presence of the chimeric gene responsible for type I familial hyperaldosteronism had been excluded. In an affected Italian mother and daughter, they identified heterozygosity for a missense mutation (G151E; 600734.0005) that was not found in 7 unaffected family members. In addition, they identified 3 somatic KCNJ5 mutations, T158A, G151R, and L168R, in aldosterone-producing adenomas (APAs) from 3 unrelated affected individuals.

Mechanosensitivity of the cardiac muscarinic potassium channel: a novel property conferred by Kir3.4 subunit. This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or FH I; 103900), patients with FH III present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in FH III are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008). In 2 of 22 aldosterone-producing adrenal adenomas (APAs) from unrelated patients with primary hyperaldosteronism (613677), Choi et al. (2011) identified a somatic G-to-A transition at position chr11:126,286,829 in the KCNJ5 gene, resulting in a gly151-to-arg (G151R) substitution. Ricci et al. (2003) stated that more than 200 different mutations in the IDS gene had been reported in patients with Hunter syndrome.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.