... Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed...

...Tomoya Kaneda; Chie Naruse; Atsuhiro Kawashima; Noboru Fujino; Toru Oshima; Masanobu Namura; Shinichi Nunoda; Sumio Mori; Tetsuo Konno; Hidekazu Ino; Masakazu Yamagishi; Masahide Asano Mutations in the βMHC (β-myosin heavy chain), a sarcomeric protein are responsible for hypertrophic and dilated...

... and sudden death. We have identified two heterozygous missense mutations in the KCNQ1 and KCNH2 (also known as HERG ) genes [Asp 611 →Tyr (D611Y) in KCNQ1 and Asp 609 →Gly (D609G) in KCNH2 ] in a 2-year-old boy with LQTS. The aim of the present study was to characterize the contributions of the mutations...

... 19 adult patients with cystic fibrosis was investigated. All patients had severe mutations, whereby no or little functional CFTR is expected in the plasma membrane. Of the patients, 15 were homozygous for ΔF508-CFTR (i.e. CTFR lacking residue Phe-508). The others were ΔF508-heterozygous with 3659delC...

... dimensions, such as Cs + and Ba 2+ . Mutations in the pore region tend to lead to either the total loss of function or K + selectivity. We have made mutations to one of the most highly conserved residues of the pore, glycine-143, of the inward rectifier ROMK1 (Kir1.1), and examined the resulting channel...

...Alec J. Jeffreys 1. Minisatellites, originally developed for forensic DNA fingerprinting and profiling, have also provided extremely informative systems for analysing processes of tandem repeat DNA turnover in the human genome. 2. Minisatellite instability involves distinct mutation processes...